ID   HG2727
AC   CVCL_WX74
DR   Wikidata; Q94192715
RX   PubMed=7585968;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (from autologous cell line HG2703).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 171 (BSR171) (Nr2(CrSPe)).
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)
OI   CVCL_WX52 ! HG2703
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 9
//
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).
//