ID   GM16859
AC   CVCL_U708
DR   CLO; CLO_0018418
DR   Coriell; GM16859
DR   GEO; GSM1316988
DR   GEO; GSM1317026
DR   Wikidata; Q54848787
RX   PubMed=2647324;
CC   Population: Jewish; Ashkenazi/Sephardic.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell=GM16859).
CC   Omics: miRNA expression profiling.
CC   Omics: Transcriptome analysis by microarray.
CC   Donor information: From Bloom Syndrome Registry patient 107(MyAsa) (BSR107).
CC   Derived from site: In situ; Uterus, cervix; UBERON=UBERON_0000002.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_WX89 ! HG1742
OI   CVCL_WX72 ! HG2654
SX   Female
AG   43Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 17
//
RX   PubMed=2647324; DOI=10.1111/j.1399-0004.1989.tb02905.x;
RA   German J.L. 3rd, Passarge E.;
RT   "Bloom's syndrome. XII. Report from the Registry for 1987.";
RL   Clin. Genet. 35:57-69(1989).
//