ID   GM02520
AC   CVCL_U704
SY   GM-2520; GM 2520; GM2520; GM02520A; HG1289
DR   CLO; CLO_0033253
DR   Coriell; GM02520
DR   GEO; GSM1316976
DR   GEO; GSM1317014
DR   Wikidata; Q54837525
RX   CelloPub=CLPUB00387;
RX   CelloPub=CLPUB00447;
RX   PubMed=436333;
RX   PubMed=908169;
RX   PubMed=17407155;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Val942fs (c.2824-1077_2999+310del1583); Zygosity=Heterozygous (PubMed=17407155; Coriell=GM02520).
CC   Sequence variation: Mutation; HGNC; 1058; BLM; Simple; p.Gln975Lysfs*24 (c.2923delC); ClinVar=VCV000042076; Zygosity=Heterozygous (PubMed=17407155; Coriell=GM02520).
CC   Omics: miRNA expression profiling.
CC   Omics: Transcriptome analysis by microarray.
CC   Donor information: From Bloom Syndrome Registry patient 20(ViSh) (BSR20).
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   Female
AG   10Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 19
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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   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=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).
//