| Cell line name |
GM01795 |
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| Synonyms |
GM-1795; GM01795A |
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| Accession |
CVCL_1D26 |
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| Resource Identification Initiative |
To cite this cell line use: GM01795 (RRID:CVCL_1D26) |
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| Comments |
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
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| Sequence variations |
- Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Arg611His (c.1832G>A); ClinVar=VCV000045442; Zygosity=Heterozygous (from autologous cell line GM01610).
- Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Trp648Ter (c.1944G>A); ClinVar=VCV000004511; Zygosity=Heterozygous (from autologous cell line GM01610).
- Mutation; HGNC; HGNC:12762; WFS1; Simple; p.Gly695Val (c.2084G>T); ClinVar=VCV000004510; Zygosity=Heterozygous (from autologous cell line GM01610).
|
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| Disease |
Wolfram syndrome (NCIt: C35133)
Wolfram syndrome (ORDO: Orphanet_3463) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Originate from same individual |
CVCL_1D23 ! GM01610 |
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| Sex of cell |
Female |
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| Age at sampling |
13Y |
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| Category |
Transformed 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; GM01795
|
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| Cell line databases/resources |
CLO; CLO_0031023
|
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| Biological sample resources |
BioSample; SAMN00807181
|
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| Encyclopedic resources |
Wikidata; Q54837084
|
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| Entry history |
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| Entry creation | 08-Jul-2015 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 16 |
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