ID   GM02085
AC   CVCL_U703
SY   GM-2085
DR   CLO; CLO_0032511
DR   BioSample; SAMN00807472
DR   Coriell; GM02085
DR   GEO; GSM1316975
DR   GEO; GSM1317012
DR   Wikidata; Q54837293
RX   CelloPub=CLPUB00447;
RX   PubMed=436333;
RX   PubMed=908169;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell=GM02085).
CC   Omics: miRNA expression profiling.
CC   Omics: Transcriptome analysis by microarray.
CC   Donor information: From Bloom Syndrome Registry patient 53(StAs) (BSR53).
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)
OI   CVCL_JD73 ! GM01620
OI   CVCL_WX73 ! HG1947
SX   Female
AG   2Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 19
//
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=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x;
RA   German J.L. III, Bloom D., Passarge E.;
RT   "Bloom's syndrome. VII. Progress report for 1978.";
RL   Clin. Genet. 15:361-367(1979).
//
RX   PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x;
RA   German J.L. III, Bloom D., Passarge E.;
RT   "Bloom's syndrome. V. Surveillance for cancer in affected families.";
RL   Clin. Genet. 12:162-168(1977).
//