| Cell line name |
GM12960 |
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| Accession |
CVCL_0N22 |
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| Resource Identification Initiative |
To cite this cell line use: GM12960 (RRID:CVCL_0N22) |
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| Comments |
Population: Hispanic.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
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| Sequence variations |
- Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Arg334Trp (c.1000C>T); ClinVar=VCV000007139; Zygosity=Heterozygous (PubMed=19359498).
- Mutation; HGNC; HGNC:1884; CFTR; Simple; c.3368-2A>T; ClinVar=VCV000371331; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM12960).
|
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| Disease |
Cystic fibrosis (NCIt: C2975)
Cystic fibrosis (ORDO: Orphanet_586) |
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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 |
10Y |
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| Category |
Transformed cell line |
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| Publications | PubMed=14709668; DOI=10.1373/clinchem.2003.028068
Sebastian S., Spitzer S.G., Grosso L.E., Wilson J.A., Schaefer F.V., Lyon E., Wolff D.J., Hajianpour A., Taylor A.K., Millson A., Stenzel T.T.
Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.
Clin. Chem. 50:251-254(2004) PubMed=19359498; DOI=10.2353/jmoldx.2009.080149; PMCID=PMC2671335
Pratt V.M., Caggana M., Bridges C., Buller-Burckle A.M., DiAntonio L., Highsmith W.E. Jr., Holtegaard L.M., Muralidharan K., Rohlfs E.M., Tarleton J.C., Toji L.H., Barker S.D., Kalman L.V.
Development of genomic reference materials for cystic fibrosis genetic testing.
J. Mol. Diagn. 11:186-193(2009) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM12960
|
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| Cell line databases/resources |
CLO; CLO_0022915
|
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| Encyclopedic resources |
Wikidata; Q54846242
|
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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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