ID   HG2829
AC   CVCL_WY13
DR   Wikidata; Q94192726
RX   PubMed=6705251;
RX   PubMed=17407155;
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Arg364Ter (c.1090A>T); ClinVar=VCV000632671; Zygosity=Homozygous (PubMed=17407155).
CC   Sequence variation: Mutation; HGNC; HGNC:1058; BLM; Simple; p.Trp567Ter (c.1701G>A); ClinVar=VCV000819865; Zygosity=Homozygous (PubMed=17407155).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 98(RoMo) (BSR98).
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: 10
//
RX   PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x;
RA   German J.L. 3rd, Bloom D., Passarge E.;
RT   "Bloom's syndrome. XI. Progress report for 1983.";
RL   Clin. Genet. 25:166-174(1984).
//
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).
//