| Cell line name |
GM00441 |
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| Synonyms |
GM-441 |
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| Accession |
CVCL_L973 |
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| Resource Identification Initiative |
To cite this cell line use: GM00441 (RRID:CVCL_L973) |
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| Comments |
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; HGNC:4135; GALT; Simple; p.Gln188Arg (c.563A>G); ClinVar=VCV000003614; Zygosity=Homozygous (Coriell=GM00441).
|
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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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| Originate from same individual |
CVCL_L972 ! GM02412 |
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| Sex of cell |
Male |
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| Age at sampling |
15Y |
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| Category |
Finite cell line |
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| Publications | PubMed=181209; DOI=10.1159/000130689
Sara Kaffe, Nicholas G. Beratis, Kurt Hirschhorn, Arthur E. Greene, Lewis Lemon Coriell;
Galactosemia. Repository identification Nos. GM-438 to GM-442.
Cytogenet. Cell Genet. 17:62-64(1976) DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
Richard A. Mulivor, Sharon F. Suchy;
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; GM00441
|
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| Cell line databases/resources |
CLO; CLO_0026119
|
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| Encyclopedic resources |
Wikidata; Q54836227
|
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| Entry history |
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| Entry creation | 06-May-2013 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 17 |
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