ID   HG1435
AC   CVCL_WX81
DR   Wikidata; Q94192509
RX   PubMed=17407155;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Heterozygous (PubMed=17407155).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gly891Glu (c.2672G>A); ClinVar=VCV000524780; Zygosity=Heterozygous (PubMed=17407155).
CC   Donor information: From Bloom Syndrome Registry patient 54(AlTu) (BSR54).
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_WY09 ! HG2709
SX   Male
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 11
//
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).
//