| Cell line name |
GM01654 |
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| Synonyms |
GM1654; GM-1654; GM 1654 |
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| Accession |
CVCL_D513 |
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| Resource Identification Initiative |
To cite this cell line use: GM01654 (RRID:CVCL_D513) |
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| Comments |
Population: Caucasian; Mennonite.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; 986; BCKDHA; Simple; p.Tyr438Asn (c.1312T>A) (Y393N); ClinVar=VCV000100009; Zygosity=Homozygous (from autologous cell line GM01655).
|
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| Disease |
Maple syrup urine disease (NCIt: C34806)
Maple syrup urine disease (ORDO: Orphanet_511) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Originate from same individual |
CVCL_D514 ! GM01655 |
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| Sex of cell |
Female |
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| Age at sampling |
5Y |
|---|
| 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) CLPUB00720
Greene A.E., Mulivor R.A.
1986/1987 catalog of cell lines. NIGMS human genetic mutant cell repository. 13th edition. October 1986.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda; USA (1986) 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; GM01654
|
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| Cell line databases/resources |
CLO; CLO_0030944
|
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| Biological sample resources |
BioSample; SAMN00807031
|
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| Encyclopedic resources |
Wikidata; Q54836985
|
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| Entry history |
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| Entry creation | 22-Oct-2012 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 18 |
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