| Cell line name |
GM00931 |
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| Synonyms |
GM-931 |
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| Accession |
CVCL_4J13 |
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| Resource Identification Initiative |
To cite this cell line use: GM00931 (RRID:CVCL_4J13) |
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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; HGNC:4982; HMBS; Simple; p.Arg26Cys (c.76C>T); ClinVar=VCV000645443; Zygosity=Heterozygous (Coriell=GM00931).
|
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| Disease |
Acute intermittent porphyria (NCIt: C84536)
Acute intermittent porphyria (ORDO: Orphanet_79276) |
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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 |
32Y |
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| Category |
Finite cell line |
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| Publications | PubMed=1165472; DOI=10.1084/jem.142.3.722; PMCID=PMC2189917
Sassa S., Solish G.I., Levere R.D., Kappas A.
Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.
J. Exp. Med. 142:722-731(1975) 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) 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; GM00931
|
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| Cell line databases/resources |
CLO; CLO_0029567
|
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| Encyclopedic resources |
Wikidata; Q54836540
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| Entry history |
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| Entry creation | 22-Sep-2015 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 12 |
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