| 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
Siby Sebastian, Silvia G. Spitzer, Leonard E. Grosso, Jean Amos Wilson, Frederick V. Schaefer, Elaine Lyon, Daynna J. Wolff, Atieh Hajianpour, Annette K. Taylor, Alison Millson, Timothy T. Stenzel;
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
Victoria M. Pratt, Michele Caggana, Christina Bridges, Arlene M. Buller-Burckle, Lisa DiAntonio, William Edward Highsmith Jr., Leonard M. Holtegaard, Kasinathan Muralidharan, Elizabeth M. Rohlfs, Jack C. Tarleton, Lorraine H. Toji ...Show all 13 authors... , Shannon D. Barker, Lisa V. Kalman; Show fewer authors
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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