| Cell line name |
GM00110 |
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| Synonyms |
GM-110; GM00110A |
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| Accession |
CVCL_W054 |
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| Resource Identification Initiative |
To cite this cell line use: GM00110 (RRID:CVCL_W054) |
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| Comments |
Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Pro237Ser (c.709C>T); ClinVar=VCV000021142; Zygosity=Heterozygous (Coriell=GM00110).
- Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Phe740_Ser741del (c.2217_2222delCTTTTC); Zygosity=Heterozygous (Coriell=GM00110).
|
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| Disease |
Niemann-Pick disease, type C1 (NCIt: C126864)
Niemann-Pick disease type C (ORDO: Orphanet_646) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
9Y |
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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) 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; GM00110
|
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| Cell line databases/resources |
CLO; CLO_0025824
|
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| Encyclopedic resources |
Wikidata; Q54836043
|
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| Entry history |
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| Entry creation | 16-Apr-2014 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 17 |
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