ID   HG2252
AC   CVCL_WY06
DR   Wikidata; Q94192653
RX   PubMed=436333;
RX   PubMed=17407155;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Ser104Ter (c.311C>A); ClinVar=VCV001683330; Zygosity=Heterozygous (PubMed=17407155).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Cys1055Ser (c.3164G>C); ClinVar=VCV000042078; Zygosity=Heterozygous (PubMed=17407155).
CC   Donor information: From Bloom Syndrome Registry patient 80(ErPal) (BSR80).
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
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 12
//
RX   PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x;
RA   German J.L. 3rd, Bloom D., Passarge E.;
RT   "Bloom's syndrome. VII. Progress report for 1978.";
RL   Clin. Genet. 15:361-367(1979).
//
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).
//