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Cellosaurus GM03498 (CVCL_F114)

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Cell line name GM03498
Synonyms GM 3498; GM3498; GM3498B; GM03498C; HG1431
Accession CVCL_F114
Resource Identification Initiative To cite this cell line use: GM03498 (RRID:CVCL_F114)
Comments Population: Caucasian; English and Jewish; Ashkenazi.
Omics: Transcriptomics; Microarray.
Omics: Transcriptomics; miRNA profiling; Microarray.
Donor information: From Bloom Syndrome Registry patient 87(AlFra) (BSR87).
Caution: Coriell has p.Cys1055fs*23 (c.3159delT) (3233delT) as the second mutation for this cell line.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Heterozygous (PubMed=17407155).
  • Mutation; HGNC; HGNC:1058; BLM; Simple; p.Cys1055Gly (c.3163T>G); ClinVar=VCV001728339; Zygosity=Heterozygous (PubMed=17407155).
Disease Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_B7BK (GM3498B-HV1)CVCL_B7BL (GM3498B-HV2)
Originate from same individual CVCL_7408 ! GM04408
Sex of cell Male
Age at sampling 4Y
Category Finite cell line
Publications

CLPUB00387
Lewis Lemon Coriell, Arthur E. Greene, Richard A. Mulivor;
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda; USA (1980)

PubMed=6648529; DOI=10.1126/science.6648529
Jay Doniger, Joseph A. DiPaolo, Nicholas Constantin Popescu;
Transformation of Bloom's syndrome fibroblasts by DNA transfection.
Science 222:1144-1146(1983)

PubMed=6705251; DOI=10.1111/j.1399-0004.1984.tb00480.x
James Lafayette German 3rd, David Bloom, Eberhard Passarge;
Bloom's syndrome. XI. Progress report for 1983.
Clin. Genet. 25:166-174(1984)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=17407155; DOI=10.1002/humu.20501
James Lafayette German 3rd, Maureen M. Sanz, Susan Ciocci, Tian-Zhang Ye, Nathan A. Ellis;
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.
Hum. Mutat. 28:743-753(2007)

Cross-references
Cell line collections (Providers) Coriell; GM03498
Cell line databases/resources CLO; CLO_0017330
Biological sample resources BioSample; SAMN00808430
Encyclopedic resources Wikidata; Q54838104
Gene expression databases GEO; GSM1316982
GEO; GSM1317020
Entry history
Entry creation22-Oct-2012
Last entry update10-Apr-2025
Version number22