Cellosaurus logo
expasy logo

Cellosaurus KOLF2.1J (CVCL_B5P3)

[Text][XML][JSON]
Cell line name KOLF2.1J
Synonyms KOLF 2.1J; WTSIi018-B-12; JAXi019-A-12; JIPSC001000; JIPSC1000; MONPSYi001-A
Accession CVCL_B5P3
Resource Identification Initiative To cite this cell line use: KOLF2.1J (RRID:CVCL_B5P3)
Comments From: The Jackson Laboratory; Bar Harbor; USA.
Population: Caucasian; British.
Omics: Genomics; Whole genome sequencing.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:18037; ARID2; Simple_corrected; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=36459969).
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (from parent cell line).
  • Mutation; HGNC; HGNC:2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (from parent cell line).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9S58 (HPSI0114i-kolf_2-C1)
Children:
CVCL_D1J6 (KOLF2.1J AAVS1-TREG3-NGN2)CVCL_E4NI (KOLF2.1J ABCA7 24.2kbdel DEL/DEL)CVCL_E4NK (KOLF2.1J ABCA7 E1679X SNV/SNV)
CVCL_E4NL (KOLF2.1J ABCA7 E1679X SNV/WT)CVCL_E4NN (KOLF2.1J ABCA7 W1214X SNV/SNV)CVCL_E4NP (KOLF2.1J ABCA7 W1214X SNV/WT)
CVCL_E4TR (KOLF2.1J ADAM10 PTC PTC/PTC)CVCL_E7JF (KOLF2.1J ADAM10 Q170H SNV/SNV)CVCL_E7JG (KOLF2.1J ADAM10 Q170H SNV/WT)
CVCL_E7JI (KOLF2.1J ADAM10 R181G SNV/SNV)CVCL_E7JJ (KOLF2.1J ADAM10 R181G SNV/WT)CVCL_E7NB (KOLF2.1J ANG 0.5kbdel DEL/DEL)
CVCL_E7JL (KOLF2.1J ANG K41I SNV/SNV)CVCL_E7JM (KOLF2.1J ANG K41I SNV/WT)CVCL_E4NQ (KOLF2.1J ANXA11 17.0kbdel DEL/DEL)
CVCL_E4NS (KOLF2.1J ANXA11 D40G SNV/SNV)CVCL_E4NT (KOLF2.1J ANXA11 D40G SNV/WT)CVCL_E4NV (KOLF2.1J ANXA11 G38R SNV/SNV)
CVCL_E4NW (KOLF2.1J ANXA11 G38R SNV/WT)CVCL_E4NY (KOLF2.1J ANXA11 R346C SNV/SNV)CVCL_E4NZ (KOLF2.1J ANXA11 R346C SNV/WT)
CVCL_E4TS (KOLF2.1J APOE 2.6kbdel DEL/DEL)CVCL_E7NC (KOLF2.1J APP 157.7kbdel DEL/DEL)CVCL_E7P8 (KOLF2.1J APP A673T (A) SNV/SNV)
CVCL_E7P9 (KOLF2.1J APP A673T (A) SNV/WT)CVCL_E7PB (KOLF2.1J APP A673T (B) SNV/SNV)CVCL_E7PC (KOLF2.1J APP A673T (B) SNV/WT)
CVCL_E7PE (KOLF2.1J APP A692G SNV/SNV)CVCL_E7PF (KOLF2.1J APP A692G SNV/WT)CVCL_E7PH (KOLF2.1J APP E693G SNV/SNV)
CVCL_E7PI (KOLF2.1J APP E693G SNV/WT)CVCL_E7PK (KOLF2.1J APP E693Q SNV/SNV)CVCL_E7PL (KOLF2.1J APP E693Q SNV/WT)
CVCL_E7PN (KOLF2.1J APP V717I SNV/SNV)CVCL_E7PP (KOLF2.1J APP V717I SNV/WT)CVCL_E4TT (KOLF2.1J ATM 60.2kbdel DEL/DEL)
CVCL_E7PR (KOLF2.1J ATM K750K SNV/SNV)CVCL_E7PS (KOLF2.1J ATM K750K SNV/WT)CVCL_E4TU (KOLF2.1J ATP13A2 18.4kbdel DEL/DEL)
CVCL_E4P0 (KOLF2.1J BCAT1 65.2kbdel DEL/DEL)CVCL_E4P1 (KOLF2.1J BLOC1S1 3.7kbdel DEL/DEL)CVCL_E4TV (KOLF2.1J CACNA1A 164.6kbdel DEL/WT)
CVCL_E4TW (KOLF2.1J CACNA1A PTC PTC/PTC)CVCL_E7JP (KOLF2.1J CACNA1A R583Q SNV/SNV)CVCL_E7JQ (KOLF2.1J CACNA1A R583Q SNV/WT)
CVCL_E4TX (KOLF2.1J CACNA1G 58.1kbdel DEL/DEL)CVCL_E7JS (KOLF2.1J CACNA1G R1274S SNV/SNV)CVCL_E7JT (KOLF2.1J CACNA1G R1274S SNV/WT)
CVCL_E4TY (KOLF2.1J CHCHD10 1.8kbdel DEL/DEL)CVCL_E7JV (KOLF2.1J CHCHD10 R15L SNV/SNV)CVCL_E7JW (KOLF2.1J CHCHD10 R15L SNV/WT)
CVCL_E4TZ (KOLF2.1J CHMP2B 26.3kbdel DEL/DEL)CVCL_E7JY (KOLF2.1J CHMP2B I29V SNV/SNV)CVCL_E7JZ (KOLF2.1J CHMP2B I29V SNV/WT)
CVCL_E7K1 (KOLF2.1J CHMP2B Q165X SNV/SNV)CVCL_E7K2 (KOLF2.1J CHMP2B Q165X SNV/WT)CVCL_E7K4 (KOLF2.1J CHMP2B Q206H SNV/SNV)
CVCL_E7K5 (KOLF2.1J CHMP2B Q206H SNV/WT)CVCL_E4QP (KOLF2.1J CLN5 9.1kbdel DEL/DEL)CVCL_E4QM (KOLF2.1J CLN5 W26X SNV/SNV)
CVCL_E4QN (KOLF2.1J CLN5 W26X SNV/WT)CVCL_E4QC (KOLF2.1J CNTNAP2 81.7kbdel DEL/DEL)CVCL_E7ND (KOLF2.1J COMT 21.8kbdel DEL/DEL)
CVCL_E4U0 (KOLF2.1J COQ2 20.9kbdel DEL/WT)CVCL_E7K7 (KOLF2.1J COQ2 M128V SNV/SNV)CVCL_E7K8 (KOLF2.1J COQ2 M128V SNV/WT)
CVCL_E4QD (KOLF2.1J CSF1R 27kbdel DEL/DEL)CVCL_E4PT (KOLF2.1J CSF1R A781E SNV/SNV)CVCL_E4PU (KOLF2.1J CSF1R A781E SNV/WT)
CVCL_E4PW (KOLF2.1J CSF1R E633K SNV/SNV)CVCL_E4PX (KOLF2.1J CSF1R E633K SNV/WT)CVCL_E7KA (KOLF2.1J DCTN1 G59S SNV/WT)
CVCL_E7KC (KOLF2.1J DCTN1 R785W SNV/SNV)CVCL_E7KD (KOLF2.1J DCTN1 R785W SNV/WT)CVCL_E7NE (KOLF2.1J DGCR2 83.5kbdel DEL/DEL)
CVCL_D6I7 (KOLF2.1J DJ1 L166P clone 1)CVCL_D6I8 (KOLF2.1J DJ1 L166P clone 2)CVCL_E4QE (KOLF2.1J DNAJC6 48.8kbdel DEL/DEL)
CVCL_E7P2 (KOLF2.1J DNAJC6 S59G SNV/SNV)CVCL_E7P3 (KOLF2.1J DNAJC6 S59G SNV/WT)CVCL_E4U1 (KOLF2.1J DNMT1 46.7kbdel DEL/WT)
CVCL_E7KF (KOLF2.1J DNMT1 Y511C SNV/SNV)CVCL_E7KG (KOLF2.1J DNMT1 Y511C SNV/WT)CVCL_E7NF (KOLF2.1J EIF2AK2 44kbdel DEL/DEL)
CVCL_E7KI (KOLF2.1J EIF2AK2 A109V SNV/SNV)CVCL_E7KJ (KOLF2.1J EIF2AK2 A109V SNV/WT)CVCL_E4U2 (KOLF2.1J EIF2B1 12.3kbdel DEL/WT)
CVCL_E7KL (KOLF2.1J EIF2B1 V183F SNV/SNV)CVCL_E7KM (KOLF2.1J EIF2B1 V183F SNV/WT)CVCL_E4QF (KOLF2.1J EIF2B2 1.1kbdel DEL/WT)
CVCL_E7KP (KOLF2.1J EIF2B3 I229M SNV/SNV)CVCL_E7KQ (KOLF2.1J EIF2B3 I229M SNV/WT)CVCL_E7NG (KOLF2.1J EIF2B3 PTC PTC/WT)
CVCL_E4QG (KOLF2.1J EIF2B4 1.8kbdel DEL/WT)CVCL_E4U3 (KOLF2.1J EIF2B5 9.7kbdel DEL/WT)CVCL_E7KS (KOLF2.1J EIF2B5 R195H SNV/SNV)
CVCL_E7KT (KOLF2.1J EIF2B5 R195H SNV/WT)CVCL_E7NH (KOLF2.1J EIF4G1 9kbdel DEL/WT)CVCL_E7KV (KOLF2.1J EIF4G1 A502V SNV/SNV)
CVCL_E7KW (KOLF2.1J EIF4G1 A502V SNV/WT)CVCL_E4W9 (KOLF2.1J ERBB4 PTC PTC/PTC)CVCL_E7KY (KOLF2.1J ERBB4 R927Q SNV/SNV)
CVCL_E7KZ (KOLF2.1J ERBB4 R927Q SNV/WT)CVCL_E4T3 (KOLF2.1J FBXO7 I87T SNV/SNV)CVCL_E4T4 (KOLF2.1J FBXO7 I87T SNV/WT)
CVCL_E7NI (KOLF2.1J FUS 7.7kbdel DEL/DEL)CVCL_E4P3 (KOLF2.1J FUS P525L SNV/SNV)CVCL_E4P4 (KOLF2.1J FUS P525L SNV/WT)
CVCL_E4P6 (KOLF2.1J FUS R216C SNV/SNV)CVCL_E4P7 (KOLF2.1J FUS R216C SNV/WT)CVCL_E4P9 (KOLF2.1J FUS R495X SNV/SNV)
CVCL_E4PA (KOLF2.1J FUS R495X SNV/WT)CVCL_E4PC (KOLF2.1J FUS R521G SNV/SNV)CVCL_E4PD (KOLF2.1J FUS R521G SNV/WT)
CVCL_E4PF (KOLF2.1J FUS R521H SNV/SNV)CVCL_E4PG (KOLF2.1J FUS R521H SNV/WT)CVCL_E4PH (KOLF2.1J FXN 37.6kbdel DEL/WT)
CVCL_E4VU (KOLF2.1J GBA1 5.4kbdel DEL/DEL)CVCL_E4VW (KOLF2.1J GBA1 D448V SNV/SNV)CVCL_E4VX (KOLF2.1J GBA1 D448V SNV/WT)
CVCL_E4VZ (KOLF2.1J GBA1 E326K SNV/SNV)CVCL_E4W0 (KOLF2.1J GBA1 E326K SNV/WT)CVCL_E4T1 (KOLF2.1J GCH1 1.5kbdel DEL/DEL)
CVCL_E4SZ (KOLF2.1J GCH1 G201E SNV/SNV)CVCL_E4T0 (KOLF2.1J GCH1 G201E SNV/WT)CVCL_E4YK (KOLF2.1J GRN 3.8kbdel DEL/DEL)
CVCL_E4QJ (KOLF2.1J GRN Q125X SNV/SNV)CVCL_E4QK (KOLF2.1J GRN Q125X SNV/WT)CVCL_E4W1 (KOLF2.1J HNRNPA1 5.1kbdel DEL/WT)
CVCL_E7L1 (KOLF2.1J HNRNPA1 D262N SNV/SNV)CVCL_E7L2 (KOLF2.1J HNRNPA1 D262N SNV/WT)CVCL_E4QB (KOLF2.1J HNRNPA2B1 8.1kbdel DEL/WT)
CVCL_E7NJ (KOLF2.1J ITM2B 28kbdel DEL/DEL)CVCL_E7L4 (KOLF2.1J ITPR1 N602D SNV/SNV)CVCL_E7L5 (KOLF2.1J ITPR1 N602D SNV/WT)
CVCL_E7L7 (KOLF2.1J KCNA1 R239S SNV/SNV)CVCL_E7L8 (KOLF2.1J KCNA1 R239S SNV/WT)CVCL_E7LA (KOLF2.1J KCNA1 R417X SNV/SNV)
CVCL_E7LB (KOLF2.1J KCNA1 R417X SNV/WT)CVCL_E4WA (KOLF2.1J KCNC3 8.9kbdel DEL/DEL)CVCL_E7LD (KOLF2.1J KCNC3 R420H SNV/SNV)
CVCL_E7LE (KOLF2.1J KCNC3 R420H SNV/WT)CVCL_E4QA (KOLF2.1J KCND3 1.2kbdel DEL/DEL)CVCL_E4WB (KOLF2.1J KCTD13 PTC PTC/WT)
CVCL_E4WC (KOLF2.1J KCTD13 PTC PTC/PTC)CVCL_E4WD (KOLF2.1J KIF5A 32.9kbdel DEL/DEL)CVCL_E4WF (KOLF2.1J KIF5A N256S SNV/SNV)
CVCL_E4WG (KOLF2.1J KIF5A N256S SNV/WT)CVCL_E7NZ (KOLF2.1J KIF5A R204Q SNV/SNV)CVCL_E7P0 (KOLF2.1J KIF5A R204Q SNV/WT)
CVCL_E4T5 (KOLF2.1J LRRK2 142.6kbdel DEL/DEL)CVCL_E4T7 (KOLF2.1J LRRK2 I2020T SNV/SNV)CVCL_E4T8 (KOLF2.1J LRRK2 I2020T SNV/WT)
CVCL_E4TA (KOLF2.1J LRRK2 N2081D SNV/SNV)CVCL_E4TB (KOLF2.1J LRRK2 N2081D SNV/WT)CVCL_E4PJ (KOLF2.1J LRRK2 R1441C SNV/SNV)
CVCL_E4PK (KOLF2.1J LRRK2 R1441C SNV/WT)CVCL_E4PM (KOLF2.1J LRRK2 R1441G SNV/SNV)CVCL_E4PN (KOLF2.1J LRRK2 R1441G SNV/WT)
CVCL_E4PQ (KOLF2.1J LRRK2 R1441H SNV/SNV)CVCL_E4PR (KOLF2.1J LRRK2 R1441H SNV/WT)CVCL_E4TD (KOLF2.1J LRRK2 R793M SNV/SNV)
CVCL_E4TE (KOLF2.1J LRRK2 R793M SNV/WT)CVCL_E4TG (KOLF2.1J LRRK2 Y1699C SNV/WT)CVCL_E8CU (KOLF2.1J MAPT G300R SNV/WT)
CVCL_E7QZ (KOLF2.1J MAPT N279K SNV/SNV)CVCL_E7R0 (KOLF2.1J MAPT N279K SNV/WT)CVCL_E8CW (KOLF2.1J MAPT Q336R SNV/SNV)
CVCL_E8CX (KOLF2.1J MAPT Q336R SNV/WT)CVCL_E7R2 (KOLF2.1J MAPT R5H SNV/SNV)CVCL_E7R3 (KOLF2.1J MAPT R5H SNV/WT)
CVCL_E7R5 (KOLF2.1J MAPT V337M SNV/WT)CVCL_E4U4 (KOLF2.1J MATR3 24.0kbdel DEL/WT)CVCL_E7LG (KOLF2.1J MATR3 F115C SNV/SNV)
CVCL_E7LH (KOLF2.1J MATR3 F115C SNV/WT)CVCL_E7LJ (KOLF2.1J MATR3 S85C SNV/SNV)CVCL_E7LK (KOLF2.1J MATR3 S85C SNV/WT)
CVCL_E7LM (KOLF2.1J MATR3 T622A SNV/SNV)CVCL_E7LN (KOLF2.1J MATR3 T622A SNV/WT)CVCL_E4Q9 (KOLF2.1J MSMO1 15.9kbdel DEL/WT)
CVCL_E4Q8 (KOLF2.1J OPTN 27.8kbdel DEL/DEL)CVCL_E4Q7 (KOLF2.1J OTUD4 30.9kbdel DEL/WT)CVCL_E4U5 (KOLF2.1J PAH 60.2kbdel DEL/DEL)
CVCL_E4U6 (KOLF2.1J PANK2 28.2kbdel DEL/DEL)CVCL_E4W7 (KOLF2.1J PANK2 C.1413-1G>T SNV/SNV)CVCL_E4W8 (KOLF2.1J PANK2 C.1413-1G>T SNV/WT)
CVCL_E7NK (KOLF2.1J PARK7 15kbdel DEL/DEL)CVCL_E4TL (KOLF2.1J PARK7 D149A SNV/SNV)CVCL_E4TM (KOLF2.1J PARK7 D149A SNV/WT)
CVCL_E4TI (KOLF2.1J PARK7 L166P SNV/SNV)CVCL_E4TJ (KOLF2.1J PARK7 L166P SNV/WT)CVCL_E4Q6 (KOLF2.1J PDE10A 71.8kbdel DEL/DEL)
CVCL_E7LQ (KOLF2.1J PFN1 C71G SNV/SNV)CVCL_E7LR (KOLF2.1J PFN1 C71G SNV/WT)CVCL_E7LT (KOLF2.1J PFN1 G118V SNV/SNV)
CVCL_E7LU (KOLF2.1J PFN1 G118V SNV/WT)CVCL_E4WI (KOLF2.1J PINK1 A217D SNV/SNV)CVCL_E4WJ (KOLF2.1J PINK1 A217D SNV/WT)
CVCL_E4WL (KOLF2.1J PINK1 P399L SNV/SNV)CVCL_E4WM (KOLF2.1J PINK1 P399L SNV/WT)CVCL_E4U7 (KOLF2.1J PLAAT4 9.8kbdel DEL/DEL)
CVCL_E4VR (KOLF2.1J PLEKHG4 8.8kbdel DEL/DEL)CVCL_E7LW (KOLF2.1J PLEKHG4 c16 SNV/SNV)CVCL_E7LX (KOLF2.1J PLEKHG4 c16 SNV/WT)
CVCL_E4VS (KOLF2.1J POLG 17.1kbdel DEL/WT)CVCL_C7TY (KOLF2.1J PPM1H KO)CVCL_E4Q5 (KOLF2.1J PRKAR1B 0.2kbdel DEL/DEL)
CVCL_E4VT (KOLF2.1J PRKCG 24.4kbdel DEL/DEL)CVCL_E7LZ (KOLF2.1J PRKCG F643L SNV/SNV)CVCL_E7M0 (KOLF2.1J PRKCG F643L SNV/WT)
CVCL_E4UI (KOLF2.1J PRKN P437L SNV/SNV)CVCL_E4UJ (KOLF2.1J PRKN P437L SNV/WT)CVCL_E4UL (KOLF2.1J PRKN R275W SNV/SNV)
CVCL_E4UM (KOLF2.1J PRKN R275W SNV/WT)CVCL_E4UP (KOLF2.1J PRKN R42P SNV/SNV)CVCL_E4UQ (KOLF2.1J PRKN R42P SNV/WT)
CVCL_E4US (KOLF2.1J PRKN T240M SNV/SNV)CVCL_E4UT (KOLF2.1J PRKN T240M SNV/WT)CVCL_E4UU (KOLF2.1J PRNP 0.9kbdel DEL/DEL)
CVCL_E7M2 (KOLF2.1J PRNP Q160X SNV/SNV)CVCL_E7M3 (KOLF2.1J PRNP Q160X SNV/WT)CVCL_E4Q4 (KOLF2.1J PSAT1 32.4kbdel DEL/DEL)
CVCL_E7NL (KOLF2.1J PSEN1 71.4kbdel DEL/DEL)CVCL_E4ST (KOLF2.1J PSEN1 E276A SNV/SNV)CVCL_E4SU (KOLF2.1J PSEN1 E276A SNV/WT)
CVCL_E4SW (KOLF2.1J PSEN1 M146I SNV/SNV)CVCL_E4SX (KOLF2.1J PSEN1 M146I SNV/WT)CVCL_E4SR (KOLF2.1J PSEN2 13.7kbdel DEL/DEL)
CVCL_E4SP (KOLF2.1J PSEN2 M239I SNV/SNV)CVCL_E4SQ (KOLF2.1J PSEN2 M239I SNV/WT)CVCL_E4SL (KOLF2.1J PSEN2 N141I SNV/SNV)
CVCL_E4SM (KOLF2.1J PSEN2 N141I SNV/WT)CVCL_E5EF (KOLF2.1J RAB39B T168K SNV/Y)CVCL_E4Q3 (KOLF2.1J RANBP1 7.5kbdel DEL/DEL)
CVCL_E4UV (KOLF2.1J RNF216 70.9kbdel DEL/DEL)CVCL_E4UX (KOLF2.1J RNF216 R694C SNV/SNV)CVCL_E4UY (KOLF2.1J RNF216 R694C SNV/WT)
CVCL_E4Q2 (KOLF2.1J SCN2A 94.3kbdel DEL/DEL)CVCL_E4VD (KOLF2.1J SERPINI1 4.6kbdel DEL/DEL)CVCL_E7M5 (KOLF2.1J SERPINI1 S49P SNV/SNV)
CVCL_E7M6 (KOLF2.1J SERPINI1 S49P SNV/WT)CVCL_E7M7 (KOLF2.1J SETX L1976R SNV/SNV)CVCL_E7M8 (KOLF2.1J SETX L1976R SNV/WT)
CVCL_E7MA (KOLF2.1J SETX L389S SNV/SNV)CVCL_E7MB (KOLF2.1J SETX L389S SNV/WT)CVCL_E7NM (KOLF2.1J SETX PTC PTC/PTC)
CVCL_E4Q1 (KOLF2.1J SEZ6L2 28.6kbdel DEL/DEL)CVCL_E7NN (KOLF2.1J SHANK3 36.2kbdel DEL/DEL)CVCL_E4VA (KOLF2.1J SIGMAR1 2.1kbdel DEL/DEL)
CVCL_E7MD (KOLF2.1J SIGMAR1 E102Q SNV/SNV)CVCL_E7ME (KOLF2.1J SIGMAR1 E102Q SNV/WT)CVCL_E4VB (KOLF2.1J SLC1A3 15.4kbdel DEL/DEL)
CVCL_E4VC (KOLF2.1J SNCA 6.2kbdel DEL/DEL)CVCL_E4VF (KOLF2.1J SNCA A30G SNV/SNV)CVCL_E4VG (KOLF2.1J SNCA A30G SNV/WT)
CVCL_E4VI (KOLF2.1J SNCA A30P SNV/SNV)CVCL_E4VJ (KOLF2.1J SNCA A30P SNV/WT)CVCL_E4VL (KOLF2.1J SNCA A53T SNV/SNV)
CVCL_E4VM (KOLF2.1J SNCA A53T SNV/WT)CVCL_E4VP (KOLF2.1J SNCA E46K SNV/SNV)CVCL_E4VQ (KOLF2.1J SNCA E46K SNV/WT)
CVCL_E7NP (KOLF2.1J SNCB 9.0kbdel DEL/DEL)CVCL_E7P5 (KOLF2.1J SNCB P123H SNV/SNV)CVCL_E7P6 (KOLF2.1J SNCB P123H SNV/WT)
CVCL_E4U8 (KOLF2.1J SOD1 9.2kbdel DEL/WT)CVCL_E4UA (KOLF2.1J SOD1 A5V SNV/SNV)CVCL_E4UB (KOLF2.1J SOD1 A5V SNV/WT)
CVCL_E4UD (KOLF2.1J SOD1 D91A SNV/SNV)CVCL_E4UE (KOLF2.1J SOD1 D91A SNV/WT)CVCL_E4UG (KOLF2.1J SOD1 I113T SNV/WT)
CVCL_E7NQ (KOLF2.1J SORL1 159.6kbdel DEL/DEL)CVCL_E7MG (KOLF2.1J SORL1 G1681D SNV/WT)CVCL_E7MI (KOLF2.1J SORL1 T947M SNV/SNV)
CVCL_E7MJ (KOLF2.1J SORL1 T947M SNV/WT)CVCL_E7ML (KOLF2.1J SORL1 Y141C SNV/SNV)CVCL_E7MM (KOLF2.1J SORL1 Y141C SNV/WT)
CVCL_E4W2 (KOLF2.1J SPG11 PTC PTC/PTC)CVCL_E4W4 (KOLF2.1J SPG11 Q1875X SNV/SNV)CVCL_E4W5 (KOLF2.1J SPG11 Q1875X SNV/WT)
CVCL_E7NR (KOLF2.1J SPTBN2 25.2kbdel DEL/DEL)CVCL_E4UZ (KOLF2.1J SYNJ1 71.0kbdel DEL/DEL)CVCL_E7MP (KOLF2.1J SYNJ1 R219Q SNV/SNV)
CVCL_E7MQ (KOLF2.1J SYNJ1 R219Q SNV/WT)CVCL_E4SJ (KOLF2.1J TARDBP 10.6kbdel DEL/WT)CVCL_E4SE (KOLF2.1J TARDBP M337V SNV/SNV)
CVCL_E4SF (KOLF2.1J TARDBP M337V SNV/WT)CVCL_E4SH (KOLF2.1J TARDBP Q331K SNV/SNV)CVCL_E4SI (KOLF2.1J TARDBP Q331K SNV/WT)
CVCL_E4V0 (KOLF2.1J TBK1 41kbdel DEL/DEL)CVCL_E7MS (KOLF2.1J TBK1 E696K SNV/SNV)CVCL_E7MT (KOLF2.1J TBK1 E696K SNV/WT)
CVCL_E7MV (KOLF2.1J TBK1 G217R SNV/SNV)CVCL_E7MW (KOLF2.1J TBK1 G217R SNV/WT)CVCL_C8FQ (KOLF2.1J TH-TdTomato)
CVCL_E4TN (KOLF2.1J TIA1 22.2kbdel DEL/DEL)CVCL_E7MY (KOLF2.1J TIA1 P351L SNV/SNV)CVCL_E7MZ (KOLF2.1J TIA1 P351L SNV/WT)
CVCL_E4Q0 (KOLF2.1J TMEM106B 17.7kbdel DEL/DEL)CVCL_E7R7 (KOLF2.1J TMEM175 M393T SNV/WT)CVCL_E4TP (KOLF2.1J TREM2 3.0kbdel DEL/DEL)
CVCL_E4V2 (KOLF2.1J TREM2 E151K SNV/SNV)CVCL_E4V3 (KOLF2.1J TREM2 E151K SNV/WT)CVCL_E7NU (KOLF2.1J TREM2 Q33X SNV/SNV)
CVCL_E7NV (KOLF2.1J TREM2 Q33X SNV/WT)CVCL_E7NW (KOLF2.1J TREM2 R47H SNV/SNV)CVCL_E7NX (KOLF2.1J TREM2 R47H SNV/WT)
CVCL_E4V5 (KOLF2.1J TREM2 R62H SNV/SNV)CVCL_E4V6 (KOLF2.1J TREM2 R62H SNV/WT)CVCL_E4V8 (KOLF2.1J TREM2 T66M SNV/SNV)
CVCL_E4V9 (KOLF2.1J TREM2 T66M SNV/WT)CVCL_E7N1 (KOLF2.1J UBQLN2 P497H SNV/Y)CVCL_E7N3 (KOLF2.1J UBQLN2 P506T SNV/Y)
CVCL_E7NS (KOLF2.1J VAPB 54.8kbdel DEL/DEL)CVCL_E7N5 (KOLF2.1J VAPB D130E SNV/SNV)CVCL_E7N6 (KOLF2.1J VAPB D130E SNV/WT)
CVCL_E7N7 (KOLF2.1J VAPB P56S SNV/SNV)CVCL_E7N8 (KOLF2.1J VAPB P56S SNV/WT)CVCL_E4QW (KOLF2.1J VCP 11.4kbdel DEL/WT)
CVCL_E4QR (KOLF2.1J VCP R155C SNV/SNV)CVCL_E4QS (KOLF2.1J VCP R155C SNV/WT)CVCL_E4QU (KOLF2.1J VCP R159H SNV/SNV)
CVCL_E4QV (KOLF2.1J VCP R159H SNV/WT)CVCL_E4PY (KOLF2.1J VIPR2 72.1kbdel DEL/DEL)CVCL_E4TQ (KOLF2.1J VPS13C 103.8kbdel DEL/DEL)
CVCL_E7NA (KOLF2.1J VPS13C c8445 SNV/WT)CVCL_E4PZ (KOLF2.1J VPS13D 157.2kbdel DEL/WT)CVCL_F0T0 (MONPSYi001-A-1)
CVCL_F0T1 (MONPSYi001-A-2)CVCL_D6RH (WTSIi018-B-19)CVCL_D6RI (WTSIi018-B-20)
Sex of cell Male
Age at sampling 55-59Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=38518401

Markers:
AmelogeninX,Y
CSF1PO11,12
D1S165614,18.3
D2S133817,19
D3S135816
D5S81812,13
D6S104312,20
D7S8209,11
D8S117911,14
D12S39118,22
D13S3179,10
D16S5399,13
D18S5112,17
D19S43314,15
D21S1131,32.2
FGA21
Penta D12,15
Penta E10,12
TH016,9.3
TPOX8,11
vWA14

Run an STR similarity search on this cell line
Web pages Provider; JAX; JIPSC001000; https://www.jax.org/jax-mice-and-services/ipsc/cells-collection/JIPSC001000
Publications

PubMed=36459969; DOI=10.1016/j.stem.2022.11.004; PMCID=PMC9782786
Caroline B. Pantazis, Andrian Yang, Erika Lara, Justin A. McDonough, Cornelis Blauwendraat, Li-Rong Peng, Hideyuki Oguro, Jitendra Kanaujiya, Ji-Zhong Zou, David Sebesta, Gretchen Pratt ...Show all 95 authors... , Erin Cross, Jeffrey Blockwick, Philip Buxton, Lauren Brooke Kinner-Bibeau, Constance Medura, Christopher Tompkins, Stephen Hughes, Marianita Santiana, Faraz Faghri, Mike A. Nalls, Daniel Vitale, Shannon Ballard, Yue Andy Qi, Daniel M. Ramos, Kailyn M. Anderson, Julia Stadler, Priyanka Narayan, Jason Papademetriou, Luke Reilly, Matthew P. Nelson, Sanya Aggarwal, Leah U. Rosen, Peter Kirwan, Venkat Pisupati, Steven L. Coon, Sonja W. Scholz, Theresa Priebe, Miriam Ottl, Jian Dong, Marieke Meijer, Lara J.M. Janssen, Vanessa S. Lourenco, Rik van der Kant, Dennis Crusius, Dominik Paquet, Ana-Caroline Raulin, Guo-Jun Bu, Aaron Held, Brian Jason Wainger, Rebecca M.C. Gabriele, Jackie M. Casey, Selina Wray, Kwaku Dad Abu-Bonsrah, Clare L. Parish, Melinda Santos Beccari, Don Whitefield Cleveland, Emmy Li, Indigo V.L. Rose, Martin Kampmann, Carles Calatayud Aristoy, Patrik Verstreken, Laurin Heinrich, Max Yang Chen, Birgitt Schule, Dan Dou, Erika L.F. Holzbaur, Maria Clara Zanellati, Richa Basundra, Mohanish Deshmukh, Sarah Cohen, Richa Khanna, Malavika Raman, Zachary S. Nevin, Madeline Matia, Jonas Van Lent, Vincent Timmerman, Bruce R. Conklin, Katherine Johnson Chase, Ke Zhang, Salome Funes, Daryl A. Bosco, Lena Erlebach, Marc Welzer, Deborah Kronenberg-Versteeg, Guo-Chang Lyu, Ernest Arenas, Elena Coccia, Lily Sarrafha, Tim Ahfeldt, John Carlo Marioni, William C. Skarnes, Mark R. Cookson, Michael E. Ward, Florian T. Merkle; Show fewer authors
A reference human induced pluripotent stem cell line for large-scale collaborative studies.
Cell Stem Cell 29:1685-1702.e22(2022)

PubMed=38518401; DOI=10.1016/j.scr.2024.103395
Stephanie Binder, Haribaskar Ramachandran, Denise Haslinger, Barbara Hildebrandt, Jochen Dobner, Thomas Haarmann-Stemmann, Andreas Geburtig Chiocchetti, Andrea Rossi;
CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: a model for investigating human ACTB loss-of-function and genetic adaptive responses.
Stem Cell Res. 77:103395-103395(2024)

Cross-references
Cell line databases/resources hPSCreg; MONPSYi001-A
hPSCreg; WTSIi018-B-12
Encyclopedic resources Wikidata; Q117704576
Entry history
Entry creation21-Mar-2023
Last entry update27-Nov-2025
Version number7