| Cell line name |
GM06966 |
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| Synonyms |
GM6966; GM 6966 |
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| Accession |
CVCL_0M39 |
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| Resource Identification Initiative |
To cite this cell line use: GM06966 (RRID:CVCL_0M39) |
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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:1884; CFTR; Simple; p.Glu92Ter (c.274G>T); ClinVar=VCV000007186; Zygosity=Heterozygous (Coriell=GM06966).
- Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (Coriell=GM06966).
|
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| Disease |
Cystic fibrosis (NCIt: C2975)
Nephropathic cystinosis (NCIt: C129932)
Cystic fibrosis (ORDO: Orphanet_586)
Nephropathic infantile cystinosis (ORDO: Orphanet_411629) |
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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 |
6Y |
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| Category |
Finite cell line |
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| Publications | CLPUB00720
Greene A.E., Mulivor R.A.
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
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) PubMed=9792862; DOI=10.1086/302118; PMCID=PMC1377545
Shotelersuk V., Larson D., Anikster Y., McDowell G., Lemons R., Bernardini I., Guo J.-R., Thoene J., Gahl W.A.
CTNS mutations in an American-based population of cystinosis patients.
Am. J. Hum. Genet. 63:1352-1362(1998) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM06966
|
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| Cell line databases/resources |
CLO; CLO_0036443
|
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| Encyclopedic resources |
Wikidata; Q54842408
|
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| Entry history |
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| Entry creation | 10-Apr-2015 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 17 |
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