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Cellosaurus GM02548 (CVCL_J657)

[Text version]
Cell line name GM02548
Synonyms GM 2548; GM2548; GM2548A; GM02548C; HG1013; HG3002
Accession CVCL_J657
Resource Identification Initiative To cite this cell line use: GM02548 (RRID:CVCL_J657)
Comments Population: African American.
Omics: miRNA expression profiling.
Omics: Transcriptome analysis by microarray.
Donor information: From Bloom Syndrome Registry patient 71(HaEn) (BSR71).
Derived from sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 1058; BLM; Simple; p.Asn515Lysfs*2 (c.1544dupA) (1610insA); ClinVar=VCV000042064; Zygosity=Heterozygous (PubMed=17407155; Coriell).
  • Mutation; HGNC; 1058; BLM; Simple; p.Gln752Ter (c.2328C>T); Zygosity=Heterozygous (PubMed=17407155; Coriell).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_M227 (MH1-BS)
Sex of cell Male
Age at sampling 6Y
Category Finite cell line

PubMed=908169; DOI=10.1111/j.1399-0004.1977.tb00919.x
German J.L. III, Bloom D., Passarge E.
Bloom's syndrome. V. Surveillance for cancer in affected families.
Clin. Genet. 12:162-168(1977)

PubMed=436333; DOI=10.1111/j.1399-0004.1979.tb01747.x
German J.L. III, Bloom D., Passarge E.
Bloom's syndrome. VII. Progress report for 1978.
Clin. Genet. 15:361-367(1979)

Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

PubMed=3030788; DOI=10.1016/0014-4827(87)90214-X
Wood C.M., Timme T.L., Hurt M.M., Brinkley B.R., Ledbetter D.H., Moses R.E.
Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid.
Exp. Cell Res. 169:543-553(1987)

Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=17407155; DOI=10.1002/humu.20501
German J.L. III, Sanz M.M., Ciocci S., Ye T.-Z., Ellis N.A.
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
Hum. Mutat. 28:743-753(2007)

Cell line collections Coriell; GM02548
Cell line databases/resources CLO; CLO_0033446
Encyclopedic resources Wikidata; Q54837542
Gene expression databases GEO; GSM1316977
GEO; GSM1317015
Entry history
Entry creation11-Feb-2013
Last entry update21-Mar-2023
Version number23