| Cell line name |
GM00422 |
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| Synonyms |
GM-422; GM 422 |
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| Accession |
CVCL_1Y19 |
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| Resource Identification Initiative |
To cite this cell line use: GM00422 (RRID:CVCL_1Y19) |
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| Comments |
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; 4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Heterozygous (Coriell=GM00422).
- Mutation; HGNC; 4135; GALT; Simple; p.Gln344Lys (c.1030C>A); ClinVar=VCV000025320; Zygosity=Heterozygous (Coriell=GM00422).
|
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| Disease |
Galactosemia (NCIt: C84723)
Galactosemia (ORDO: Orphanet_352) |
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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 |
9Y |
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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) PubMed=1766867; DOI=10.1093/nar/19.25.7049; PMCID=PMC332510
Reichardt J.K.V.
Molecular analysis of 11 galactosemia patients.
Nucleic Acids Res. 19:7049-7052(1991) 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; GM00422
|
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| Cell line databases/resources |
CLO; CLO_0026124
|
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| Encyclopedic resources |
Wikidata; Q54836211
|
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| Entry history |
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| Entry creation | 22-Sep-2015 |
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| Last entry update | 30-Jan-2024 |
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| Version number | 16 |
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