Cell line name |
GM01673 |
Synonyms |
GM1673; GM-1673 |
Accession |
CVCL_0D84 |
Resource Identification Initiative |
To cite this cell line use: GM01673 (RRID:CVCL_0D84) |
Comments |
Population: Caucasian. Cell type: Fibroblast; CL=CL_0000057. |
Disease |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (NCIt: C148366) Vitamin B12-unresponsive methylmalonic acidemia (ORDO: Orphanet_27) |
Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
Sex of cell |
Male |
Age at sampling |
1D |
Category |
Finite cell line |
Publications | 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) CLPUB00720 Arthur E. Greene, Richard A. Mulivor; 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 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) PubMed=7909321; DOI=10.1172/JCI117166; PMCID=PMC294249 Amber A. Qureshi, Ana M. Crane, Nora V. Matiaszuk, Iraj Rezvani, Fred D. Ledley, David S. Rosenblatt; Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria. J. Clin. Invest. 93:1812-1819(1994) |
Cross-references |
Cell line collections (Providers) |
Coriell; GM01673
|
Cell line databases/resources |
CLO; CLO_0030951
|
Biological sample resources |
BioSample; SAMN00807059
|
Encyclopedic resources |
Wikidata; Q54837006
|
Entry history |
Entry creation | 10-Apr-2015 |
Last entry update | 29-Jun-2023 |
Version number | 15 |
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