| Cell line name |
GM02327 |
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| Synonyms |
GM2327; GM-2327 |
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| Accession |
CVCL_AD65 |
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| Resource Identification Initiative |
To cite this cell line use: GM02327 (RRID:CVCL_AD65) |
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| Comments |
Population: Caucasian; Mennonite.
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; 986; BCKDHA; Simple; p.Tyr438Asn (c.1312T>A) (Y393N); ClinVar=VCV000100009; Zygosity=Homozygous (from familial inference of GM01099).
|
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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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| Sex of cell |
Female |
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| Age at sampling |
4M |
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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) 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; GM02327
|
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| Cell line databases/resources |
CLO; CLO_0032179
|
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| Biological sample resources |
BioSample; SAMN00807697
|
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| Encyclopedic resources |
Wikidata; Q54837428
|
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| Entry history |
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| Entry creation | 23-Feb-2016 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 14 |
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