ID   GM10745
AC   CVCL_UT33
DR   Coriell; GM10745
DR   Wikidata; Q93810682
RX   CelloPub=CLPUB00447;
RX   PubMed=6705251;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 2623; CYP2C9; Simple; p.Ile359Leu (c.1075A>C); ClinVar=VCV000008408; Zygosity=Heterozygous; Note=CYP2C9*3 allele (from parent cell line).
CC   Transformant: Ad-SV40 hybrid virus.
CC   Donor information: From Bloom Syndrome Registry patient 86(NoKi) (BSR86).
CC   Discontinued: Coriell; GM10745; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_L951 ! BS1KA
SX   Female
AG   6Y
CA   Transformed cell line
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 11
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x;
RA   German J.L. III, Bloom D., Passarge E.;
RT   "Bloom's syndrome. XI. Progress report for 1983.";
RL   Clin. Genet. 25:166-174(1984).
//