ID   TK6261
AC   CVCL_F6LS
RX   PubMed=37714828;
CC   Population: Caucasian.
CC   Characteristics: Does not proliferate in 2'-deoxycytidine-hypoxanthine-aminopterin-thymidine medium unless TK1 activity is restored (PubMed=37714828).
CC   Selected for resistance to: ChEBI; CHEBI_9555; Tioguanine (6-thioguanine; 6-TG).
CC   Sequence variation: Mutation; HGNC; HGNC:11272; SPTA1; Simple; p.Ser1163Ala (c.3487T>G); ClinVar=VCV000258929; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:11830; TK1; Simple; p.Ala78Argfs*27 (c.231insC); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:11830; TK1; Simple_edited; p.Asp104Glyfs*195 (c.311_318del); Zygosity=Heterozygous; Note=By CRISPR/Cas9, introduced on the allele carrying c.640insG (PubMed=37714828).
CC   Sequence variation: Mutation; HGNC; HGNC:11830; TK1; Simple; p.Glu214Glyfs*153 (c.640insG); Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Transformant: ChEBI; CHEBI_132982; Acridine half-mustard dihydrochloride (6-chloro-9-[3-(2-chloroethylamino)propylamino]-2-methoxyacridine dihydrochloride; Acridine mutagen ICR 191).
CC   Derived from site: In situ; Spleen; UBERON=UBERON_0002106.
CC   Cell type: B-cell; CL=CL_0000236.
DI   NCIt; C97074; Hereditary spherocytosis
DI   ORDO; Orphanet_822; Hereditary spherocytosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_AR68 ! TK6 (IVGT)
SX   Male
AG   5Y
CA   Transformed cell line
DT   Created: 22-10-26; Last updated: 22-10-26; Version: 1
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RX   PubMed=37714828; DOI=10.1038/s41467-023-41048-5; PMCID=PMC10504326;
RA   Tomita, Akiko
RA   Sasanuma, Hiroyuki
RA   Owa, Tomoo
RA   Nakazawa, Yuka
RA   Shimada, Mayuko
RA   Fukuoka, Takahiro
RA   Ogi, Tomoo
RA   Nakada, Shinichiro
RT   "Inducing multiple nicks promotes interhomolog homologous
RT   recombination to correct heterozygous mutations in somatic cells.";
RL   Nat. Commun. 14:5607-5607(2023).
//