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Cellosaurus HPSI0114i-kolf_2 (CVCL_AE29)

[Text version]
Cell line name HPSI0114i-kolf_2
Synonyms WTSIi018-B; KOLF2
Accession CVCL_AE29
Resource Identification Initiative To cite this cell line use: HPSI0114i-kolf_2 (RRID:CVCL_AE29)
Comments From: Cambridge BioResource; Cambridge; United Kingdom.
From: Wellcome Trust Sanger Institute; Hinxton; United Kingdom.
Population: Caucasian; British.
Omics: Deep exome analysis.
Omics: Deep proteome analysis.
Omics: Genome sequenced.
Omics: Transcriptome analysis by microarray.
Omics: Transcriptome analysis by RNAseq.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 18037; ARID2; Simple; p.Pro197Hisfs*12 (c.590_608delCTAAAATCATCACTTTACT); Zygosity=Heterozygous (PubMed=31216442; PubMed=31813827).
  • Mutation; HGNC; 2201; COL3A1; Simple; c.3526-1G>A; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=31216442; PubMed=31813827).
  • Mutation; HGNC; 2201; COL3A1; Simple; p.Gly1176Ser (c.3526G>A); Zygosity=Heterozygous (PubMed=31216442; PubMed=31813827).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_9S58 (HPSI0114i-kolf_2-C1)
Originate from same individual CVCL_JM73 ! HPSI0114i-kolf_1
CVCL_AE30 ! HPSI0114i-kolf_3
Sex of cell Male
Age at sampling 55-59Y
Category Induced pluripotent stem cell
Publications

PubMed=28489815; DOI=10.1038/nature22403
Kilpinen H., Goncalves A., Leha A., Afzal V., Alasoo K., Ashford S., Bala S., Bensaddek D., Casale F.P., Culley O.J., Danecek P., Faulconbridge A., Harrison P.W., Kathuria A., McCarthy D., McCarthy S.A., Meleckyte R., Memari Y., Moens N., Soares F., Mann A., Streeter I., Agu C.A., Alderton A., Nelson R., Harper S., Patel M.J., White A., Patel S.R., Clarke L., Halai R., Kirton C.M., Kolb-Kokocinski A., Beales P., Birney E., Danovi D., Lamond A.I., Ouwehand W.H., Vallier L., Watt F.M., Durbin R., Stegle O., Gaffney D.J.
Common genetic variation drives molecular heterogeneity in human iPSCs.
Nature 546:370-375(2017)

PubMed=31216442; DOI=10.1016/j.ymeth.2019.06.016
Skarnes W.C., Pellegrino E., McDonough J.A.
Improving homology-directed repair efficiency in human stem cells.
Methods 164:18-28(2019)

PubMed=31813827; DOI=10.1016/j.stemcr.2019.11.003
Hildebrandt M.R., Reuter M.S., Wei W., Tayebi N., Liu J.-J., Sharmin S., Mulder J., Lesperance L.S., Brauer P.M., Mok R.S.-F., Kinnear C., Piekna A., Romm A., Howe J., Pasceri P., Meng G.-L., Rozycki M., Rodrigues D.C., Martinez E.C., Szego M.J., Zuniga-Pflucker J.C., Anderson M.K., Prescott S.A., Rosenblum N.D., Kamath B.M., Mital S., Scherer S.W., Ellis J.
Precision health resource of control iPSC lines for versatile multilineage differentiation.
Stem Cell Reports 13:1126-1141(2019)

Cross-references
Cell line collections (Providers) ECACC; 77650100
Cell line databases/resources HipSci; HPSI0114i-kolf_2
hPSCreg; WTSIi018-B
SKIP; SKIP002605
Biological sample resources BioSamples; SAMEA2547615
Encyclopedic resources Wikidata; Q54890431
Gene expression databases ArrayExpress; E-MTAB-4057
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number14