ID   HG2231
AC   CVCL_WY05
DR   Wikidata; Q94192649
RX   PubMed=7585968;
RX   PubMed=17407155;
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Gln672Arg (c.2015A>G) (2089A>G); ClinVar=VCV000188963; Zygosity=Heterozygous (PubMed=7585968; PubMed=17407155).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Cys1055Arg (c.3163T>C); ClinVar=VCV000549904; Zygosity=Heterozygous (PubMed=7585968; PubMed=17407155).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 139(ViKre) (BSR139).
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)
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 10
//
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).
//