ID   HG2510
AC   CVCL_WY08
DR   Wikidata; Q94192677
RX   PubMed=2647324;
RX   PubMed=7585968;
RX   PubMed=17407155;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Lys272Ter (c.814A>T) (888A>T); Zygosity=Heterozygous (PubMed=7585968; PubMed=17407155).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Ala363fs (c.1220+3A>G); ClinVar=VCV000949363; Zygosity=Heterozygous (PubMed=7585968; PubMed=17407155).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 112(NaSch) (BSR112).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 12
//
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=7585968; DOI=10.1016/0092-8674(95)90105-1;
RA   Ellis N.A., Groden J., Ye T.-Z., Straughen J.E., Lennon D.J., Ciocci S.,
RA   Proytcheva M., German J.L. 3rd;
RT   "The Bloom's syndrome gene product is homologous to RecQ helicases.";
RL   Cell 83:655-666(1995).
//
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).
//