ID   GM3498B-HV2
AC   CVCL_B7BL
DR   Wikidata; Q111733246
RX   PubMed=6648529;
CC   Population: Caucasian; English and Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Cys1055Gly (c.3163T>G); ClinVar=VCV001728339; Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 11807; Harvey murine sarcoma virus (Ha-MSV).
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_F114 ! GM03498
SX   Male
AG   4Y
CA   Transformed cell line
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=6648529; DOI=10.1126/science.6648529;
RA   Doniger J., DiPaolo J.A., Popescu N.C.;
RT   "Transformation of Bloom's syndrome fibroblasts by DNA transfection.";
RL   Science 222:1144-1146(1983).
//