ID   GM16375
AC   CVCL_7651
SY   HG1525
DR   CLO; CLO_0019421
DR   Coriell; GM16375
DR   Wikidata; Q54848484
RX   PubMed=436333;
RX   PubMed=10521302;
RX   PubMed=11325959;
RX   PubMed=17407155;
CC   Population: Caucasian; French Canadian.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Ser595Ter (c.1784C>A); ClinVar=VCV000820081; Zygosity=Homozygous (PubMed=10521302; Coriell=GM16375).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Donor information: From Bloom Syndrome Registry patient 81(MaGrou) (BSR81).
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_U694 ! GM03509
SX   Male
AG   7Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 21
//
RX   PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x;
RA   German J.L. III, Bloom D., Passarge E.;
RT   "Bloom's syndrome. VII. Progress report for 1978.";
RL   Clin. Genet. 15:361-367(1979).
//
RX   PubMed=10521302; DOI=10.1086/302616;
RA   Ellis N.A., Proytcheva M., Sanz M.M., Ye T.-Z., German J.L. III;
RT   "Transfection of BLM into cultured Bloom syndrome cells reduces the
RT   sister-chromatid exchange rate toward normal.";
RL   Am. J. Hum. Genet. 65:1368-1374(1999).
//
RX   PubMed=11325959; DOI=10.1074/jbc.M009664200;
RA   Langland G.T., Kordich J., Creaney J., Goss K.H., Lillard-Wetherell K.,
RA   Bebenek K., Kunkel T.A., Groden J.;
RT   "The Bloom's syndrome protein (BLM) interacts with MLH1 but is not
RT   required for DNA mismatch repair.";
RL   J. Biol. Chem. 276:30031-30035(2001).
//
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).
//