ID   TX545
AC   CVCL_A1SH
DR   Wikidata; Q105511281
RX   PubMed=7859358;
RX   PubMed=11404339;
CC   Population: Caucasian.
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 (PubMed=7859358).
CC   Sequence variation: Mutation; HGNC; HGNC:11830; TK1; Simple; p.Thr163Lys (c.488_489CC>AG); Zygosity=Heterozygous (PubMed=7859358).
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.
DI   NCIt; C97074; Hereditary spherocytosis
DI   ORDO; Orphanet_822; Hereditary spherocytosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0561 ! TK6
SX   Male
AG   5Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=7859358; DOI=10.1093/carcin/16.2.267;
RA   Giver C.R., Nelson S.L. Jr., Cha M.Y., Pongsaensook P.,
RA   Grosovsky A.J.;
RT   "Mutational spectrum of X-ray induced TK- human cell mutants.";
RL   Carcinogenesis 16:267-275(1995).
//
RX   PubMed=11404339; DOI=10.1093/genetics/158.2.757; PMCID=PMC1461692;
RA   Quintana P.J.E., Neuwirth E.A.H., Grosovsky A.J.;
RT   "Interchromosomal gene conversion at an endogenous human cell locus.";
RL   Genetics 158:757-767(2001).
//