| Cell line name |
GM01673 |
|---|
| Synonyms |
GM1673; GM-1673 |
|---|
| Accession |
CVCL_0D84 |
|---|
| Resource Identification Initiative |
To cite this cell line use: GM01673 (RRID:CVCL_0D84) |
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| 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
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) PubMed=7909321; DOI=10.1172/JCI117166
Qureshi A.A., Crane A.M., Matiaszuk N.V., Rezvani I., Ledley F.D., Rosenblatt D.S.
Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.
J. Clin. Invest. 93:1812-1819(1994) |
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| Cross-references |
|---|
| Cell line collections (Providers) |
Coriell; GM01673
|
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| Cell line databases/resources |
CLO; CLO_0030951
|
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| Biological sample resources |
BioSample; SAMN00807059
|
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| Encyclopedic resources |
Wikidata; Q54837006
|
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| Entry history |
|---|
| Entry creation | 10-Apr-2015 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 15 |
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