| Cell line name |
GM03402 |
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| Synonyms |
GM 3402; GM3402; GM03402A |
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| Accession |
CVCL_J655 |
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| Resource Identification Initiative |
To cite this cell line use: GM03402 (RRID:CVCL_J655) |
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| Comments |
Population: Jewish; Ashkenazi.
Omics: miRNA expression profiling.
Omics: Transcriptome analysis by microarray.
Donor information: From Bloom Syndrome Registry patient 9(EmSh) (BSR9).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; 1058; BLM; Simple; p.Tyr736Leufs*5 (c.2207_2212delATCTGAinsTAGATTC) (2281del6ins7) (BLMAsh); ClinVar=VCV000005454; Zygosity=Homozygous (Coriell=GM03402).
|
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| Disease |
Bloom syndrome (NCIt: C2903)
Bloom syndrome (ORDO: Orphanet_125) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Originate from same individual |
CVCL_J656 ! GM03403 |
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| Sex of cell |
Male |
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| Age at sampling |
30Y |
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| Category |
Finite cell line |
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| Publications | 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) CLPUB00387
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=3180052
Lehmann A.R., Willis A.E., Broughton B.C., James M.R., Steingrimsdottir H., Harcourt S.A., Arlett C.F., Lindahl T.R.
Relation between the human fibroblast strain 46BR and cell lines representative of Bloom's syndrome.
Cancer Res. 48:6343-6347(1988) CLPUB00447
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=19966276; DOI=10.1093/nar/gkp1103
Johnson J.E., Cao K., Ryvkin P., Wang L.-S., Johnson F.B.
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential.
Nucleic Acids Res. 38:1114-1122(2010) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM03402
|
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| Cell line databases/resources |
CLO; CLO_0016334
|
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| Biological sample resources |
BioSample; SAMN00808396
|
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| Encyclopedic resources |
Wikidata; Q54838053
|
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| Gene expression databases |
GEO; GSM476014
GEO; GSM1316981
GEO; GSM1317019
|
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| Entry history |
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| Entry creation | 11-Feb-2013 |
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| Last entry update | 30-Jan-2024 |
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| Version number | 21 |
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