| Cell line name |
GM03469 |
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| Synonyms |
GM03469A; GM17066 |
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| Accession |
CVCL_7390 |
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| Resource Identification Initiative |
To cite this cell line use: GM03469 (RRID:CVCL_7390) |
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| Comments |
Part of: Human variation panel.
Population: Mexican.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Variations; CNV analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
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| Sequence variations |
- Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Arg170His (c.509G>A); ClinVar=VCV000053983; Zygosity=Heterozygous (Coriell=GM03469).
|
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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 |
20Y |
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| Category |
Transformed cell line |
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| Publications | CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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=16244288; DOI=10.1373/clinchem.2005.048686
Susan H. Bernacki, Jeanne C. Beck, Kasinathan Muralidharan, Frederick V. Schaefer, Antony E. Shrimpton, Kristy L. Richie, Barbara C. Levin, Genevieve Pont-Kingdon, Timothy T. Stenzel;
Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.
Clin. Chem. 51:2156-2159(2005) PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242
Zhen-Ya Tang, Dorit S. Berlin, Lorraine Hellenga Toji, Gokce Altay Toruner, Christine M. Beiswanger, Shashikant Kulkarni, Christa Lese Martin, Beverly S. Emanuel, Michael Fabrique Christman, Norman Phillip Gerry;
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds.
G3 (Bethesda) 3:1143-1149(2013) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM03469
Coriell; GM17066
|
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| Cell line databases/resources |
CLO; CLO_0014565
CLO; CLO_0017026
|
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| Biological sample resources |
BioSample; SAMN00808417
|
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| Encyclopedic resources |
Wikidata; Q54838084
|
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| Entry history |
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| Entry creation | 04-Apr-2012 |
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| Last entry update | 10-Apr-2025 |
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| Version number | 24 |
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