| Cell line name |
GM02406 |
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| Synonyms |
GM2406; GM-2406 |
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| Accession |
CVCL_W148 |
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| Resource Identification Initiative |
To cite this cell line use: GM02406 (RRID:CVCL_W148) |
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| Comments |
Population: Caucasian.
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; 8582; PAH; Simple; p.Phe299Cys (c.896T>G); ClinVar=VCV000000613; Zygosity=Heterozygous (Coriell=GM02406).
- Mutation; HGNC; 8582; PAH; Simple; p.Arg408Trp (c.1222C>T); ClinVar=VCV000000577; Zygosity=Heterozygous (Coriell=GM02406).
|
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| Disease |
Phenylketonuria (NCIt: C81315)
Phenylketonuria (ORDO: Orphanet_716) |
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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 |
2M |
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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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.) NIH 87-2011; pp.1-549; National Institutes of Health; Bethesda (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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM02406
|
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| Cell line databases/resources |
CLO; CLO_0033105
|
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| Biological sample resources |
BioSample; SAMN00807743
|
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| Encyclopedic resources |
Wikidata; Q54837467
|
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| Entry history |
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| Entry creation | 16-Apr-2014 |
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| Last entry update | 30-Jan-2024 |
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| Version number | 19 |
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