ID   GM16883
AC   CVCL_U712
SY   HG1348
DR   CLO; CLO_0018136
DR   Coriell; GM16883
DR   GEO; GSM1316991
DR   GEO; GSM1317029
DR   Wikidata; Q54848800
RX   PubMed=908169;
RX   PubMed=17407155;
CC   Population: Caucasian; Belgian.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Ala363fs (c.1088-2A>G) (IVS5-2A>G); Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=17407155; Coriell=GM16883).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln672Arg (c.2015A>G) (2089A>G); ClinVar=VCV000188963; Zygosity=Heterozygous (PubMed=17407155; Coriell=GM16883).
CC   Omics: miRNA expression profiling.
CC   Omics: Transcriptome analysis by microarray.
CC   Donor information: From Bloom Syndrome Registry patient 31(CaDe) (BSR31).
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)
SX   Female
AG   25Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 19
//
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).
//