| Cell line name |
GM11290 |
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| Accession |
CVCL_V233 |
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| Resource Identification Initiative |
To cite this cell line use: GM11290 (RRID:CVCL_V233) |
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| Comments |
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; 1884; CFTR; Simple; p.Ala455Glu (c.1364C>A); ClinVar=VCV000007111; Zygosity=Heterozygous (Coriell=GM11290).
- Mutation; HGNC; 1884; CFTR; Simple; c.489+1G>T (621+1G>T); ClinVar=VCV000038799; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM11290).
|
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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 |
Female |
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| Age at sampling |
Age unspecified |
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| Category |
Transformed cell line |
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| Publications | 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=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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM11290
|
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| Cell line databases/resources |
CLO; CLO_0026005
|
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| Encyclopedic resources |
Wikidata; Q54844969
|
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| Entry history |
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| Entry creation | 16-Apr-2014 |
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| Last entry update | 30-Jan-2024 |
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| Version number | 17 |
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