ID   GM16860
AC   CVCL_U709
SY   HG2896
DR   CLO; CLO_0018129
DR   Coriell; GM16860
DR   Wikidata; Q54848788
RX   PubMed=17407155;
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Arg899Ter (c.2695C>T); ClinVar=VCV000127491; Zygosity=Homozygous (PubMed=17407155; Coriell=GM16860).
CC   Donor information: From Bloom Syndrome Registry patient 191 (BSR191).
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   Male
AG   5Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 16
//
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).
//