| Cell line name |
GM00514 |
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| Synonyms |
GM-514 |
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| Accession |
CVCL_U383 |
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| Resource Identification Initiative |
To cite this cell line use: GM00514 (RRID:CVCL_U383) |
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| Comments |
Population: Jewish; Ashkenazi.
Derived from site: In situ; Heart, pericardium; UBERON=UBERON_0002407.
Cell type: Fibroblast of heart; CL=CL_0002548. |
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| Sequence variations |
- Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Trp392Ter (c.1176G>A); ClinVar=VCV000003936; Zygosity=Heterozygous (from familial inference of GM00515).
- Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Tyr427Ilefs*5 (c.1274_1277dupTATC) (c.1278insTATC); ClinVar=VCV000003889; Zygosity=Heterozygous (from familial inference of GM00515).
|
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| Disease |
Tay-Sachs disease (NCIt: C85184)
Tay-Sachs disease (ORDO: Orphanet_845) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Female |
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| Age at sampling |
3Y |
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| Category |
Finite cell line |
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| Publications | DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) CLPUB00447
Mulivor R.A., Suchy S.F.
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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM00514
|
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| Cell line databases/resources |
CLO; CLO_0025936
|
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| Encyclopedic resources |
Wikidata; Q54836281
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| Entry history |
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| Entry creation | 03-Feb-2014 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 12 |
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