| Cell line name |
GM00527 |
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| Synonyms |
GM-527 |
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| Accession |
CVCL_U385 |
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| Resource Identification Initiative |
To cite this cell line use: GM00527 (RRID:CVCL_U385) |
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| Comments |
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; HGNC:4878; HEXA; Simple; p.Trp420Cys (c.1260G>C); ClinVar=VCV000003901; Zygosity=Heterozygous (Coriell=GM00527).
- Mutation; HGNC; HGNC:4878; HEXA; Simple; c.1330+1G>A (IVS11+1G>A); ClinVar=VCV000371490; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM00527).
|
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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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| Hierarchy |
Children:
|
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| Sex of cell |
Male |
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| Age at sampling |
1Y |
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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; GM00527
|
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| Cell line databases/resources |
CLO; CLO_0026040
|
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| Encyclopedic resources |
Wikidata; Q54836292
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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 | 20 |
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