ID   GM08505
AC   CVCL_7488
SY   GM8505; GM08505B; HG2522
DR   BTO; BTO:0003589
DR   CLO; CLO_0010549
DR   BioSample; SAMN00798078
DR   Coriell; GM08505
DR   Wikidata; Q54843216
RX   CelloPub=CLPUB00447;
RX   PubMed=908169;
RX   PubMed=3180052;
RX   PubMed=7585968;
RX   PubMed=10521302;
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=7585968; PubMed=10521302; PubMed=17407155; Coriell=GM08505).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Donor information: From Bloom Syndrome Registry patient 42(RaFr) (BSR42).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2903; Bloom syndrome
DI   ORDO; Orphanet_125; Bloom syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F288 ! AG06040
SX   Female
AG   27Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 23
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
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=3180052;
RA   Lehmann A.R., Willis A.E., Broughton B.C., James M.R.,
RA   Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.;
RT   "Relation between the human fibroblast strain 46BR and cell lines
RT   representative of Bloom's syndrome.";
RL   Cancer Res. 48:6343-6347(1988).
//
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. III;
RT   "The Bloom's syndrome gene product is homologous to RecQ helicases.";
RL   Cell 83:655-666(1995).
//
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=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).
//