ID   GM16882
AC   CVCL_U711
SY   HG369
DR   CLO; CLO_0018137
DR   Coriell; GM16882
DR   GEO; GSM1316990
DR   GEO; GSM1317028
DR   Wikidata; Q54848799
RX   PubMed=908169;
RX   PubMed=17407155;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Heterozygous (PubMed=17407155; Coriell=GM16882).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Phe1087Leufs*11 (c.3261delT); ClinVar=VCV000454132; Zygosity=Heterozygous (PubMed=17407155; Coriell=GM16882).
CC   Omics: miRNA expression profiling.
CC   Omics: Transcriptome analysis by microarray.
CC   Donor information: From Bloom Syndrome Registry patient 26(SaTi) (BSR26).
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_WX75 ! HG2166
SX   Female
AG   3Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 18
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RX   PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x;
RA   German J.L. 3rd, Bloom D., Passarge E.;
RT   "Bloom's syndrome. V. Surveillance for cancer in affected families.";
RL   Clin. Genet. 12:162-168(1977).
//
RX   PubMed=17407155; DOI=10.1002/humu.20501;
RA   German J.L. 3rd, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.A.;
RT   "Syndrome-causing mutations of the BLM gene in persons in the Bloom's
RT   Syndrome Registry.";
RL   Hum. Mutat. 28:743-753(2007).
//