ID   HG2508
AC   CVCL_WY07
DR   Wikidata; Q94192672
RX   PubMed=2647324;
RX   PubMed=17407155;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln645Ter (c.1933C>T); ClinVar=VCV000454091; Zygosity=Heterozygous (PubMed=17407155).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln909Ter (c.2725C>T); ClinVar=VCV001454098; Zygosity=Heterozygous (PubMed=17407155).
CC   Donor information: From Bloom Syndrome Registry patient 105(ShWo) (BSR105).
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
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 11
//
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).
//
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).
//