ID   GM01492
AC   CVCL_7320
SY   GM-1492; GM 1492; GM1492; GM01492B; GM1492B; GM01492C; GM1492C; GM01492E; BLM1492; HG1232
DR   BTO; BTO:0003590
DR   CLO; CLO_0031438
DR   BioSample; SAMN00806878
DR   Coriell; GM01492
DR   GEO; GSM1316972
DR   GEO; GSM1317009
DR   Wikidata; Q54836868
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=436333;
RX   PubMed=761484;
RX   PubMed=908169;
RX   PubMed=6622549;
RX   PubMed=7067035;
RX   PubMed=7471105;
RX   PubMed=7471106;
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=17407155; Coriell=GM01492).
CC   Omics: miRNA expression profiling.
CC   Omics: Transcriptome analysis by microarray.
CC   Donor information: From Bloom Syndrome Registry patient 44(AbRu) (BSR44).
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)
SX   Male
AG   15Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 24
//
RX   CelloPub=CLPUB00387;
RA   Coriell L.L., Greene A.E., Mulivor R.A.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 7th edition. October 1980.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980).
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
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=761484; DOI=10.1159/000131301;
RA   Cohen M.M., Sagi M., Ben-Zur Z., Schaap T., Voss R., Kohn G.,
RA   Ben-Bassat H.;
RT   "Ataxia telangiectasia: chromosomal stability in continuous
RT   lymphoblastoid cell lines.";
RL   Cytogenet. Cell Genet. 23:44-52(1979).
//
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=6622549; DOI=10.1111/j.1751-1097.1983.tb08373.x;
RA   Coohill T.P., Moore S.P., Grider R.A.;
RT   "Action spectra (254-302 nm) for four human photosensitive cell
RT   lines.";
RL   Photochem. Photobiol. 38:105-107(1983).
//
RX   PubMed=7067035; DOI=10.1093/carcin/3.1.33;
RA   Teo I.A., Arlett C.F.;
RT   "The response of a variety of human fibroblast cell strains to the
RT   lethal effects of alkylating agents.";
RL   Carcinogenesis 3:33-37(1982).
//
RX   PubMed=7471105;
RA   Weichselbaum R.R., Nove J., Little J.B.;
RT   "X-ray sensitivity of fifty-three human diploid fibroblast cell
RT   strains from patients with characterized genetic disorders.";
RL   Cancer Res. 40:920-925(1980).
//
RX   PubMed=7471106;
RA   Arlett C.F., Harcourt S.A.;
RT   "Survey of radiosensitivity in a variety of human cell strains.";
RL   Cancer Res. 40:926-932(1980).
//
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).
//