ID   HG1947
AC   CVCL_WX73
DR   Wikidata; Q94192598
RX   PubMed=908169;
RX   PubMed=17407155;
CC   Population: Jewish; Ashkenazi.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (PubMed=17407155).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 53(StAs) (BSR53).
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_JD73 ! GM01620
OI   CVCL_U703 ! GM02085
SX   Female
CA   Transformed cell line
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x;
RA   German J.L. III, Bloom D., Passarge E.;
RT   "Bloom's syndrome. V. Surveillance for cancer in affected families.";
RL   Clin. Genet. 12:162-168(1977).
//
RX   PubMed=17407155; DOI=10.1002/humu.20501;
RA   German J.L. III, 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).
//