| Cell line name |
GM00863 |
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| Synonyms |
GM-863; GM 0863 |
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| Accession |
CVCL_7303 |
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| Resource Identification Initiative |
To cite this cell line use: GM00863 (RRID:CVCL_7303) |
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| Comments |
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; HGNC:6617; LIPA; Simple; p.Thr97Arg (c.290C>G); Zygosity=Heterozygous (Coriell=GM00863).
- Mutation; HGNC; HGNC:6617; LIPA; Simple; p.Gly118Asp (c.353G>A); Zygosity=Heterozygous (Coriell=GM00863).
|
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| Disease |
Wolman disease (NCIt: C61271)
Wolman disease (ORDO: Orphanet_75233) |
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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 |
11Y |
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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=6782865; PMCID=PMC1684950
Burton B.K., Reed S.P.
Acid lipase cross-reacting material in Wolman disease and cholesterol ester storage disease.
Am. J. Hum. Genet. 33:203-208(1981) 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; GM00863
|
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| Cell line databases/resources |
CLO; CLO_0003517
CLO; CLO_0029632
CLDB; cl1484
|
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| Encyclopedic resources |
Wikidata; Q54836485
|
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| Entry history |
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| Entry creation | 04-Apr-2012 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 17 |
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