| Cell line name |
GM00504 |
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| Synonyms |
GM-504 |
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| Accession |
CVCL_J106 |
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| Resource Identification Initiative |
To cite this cell line use: GM00504 (RRID:CVCL_J106) |
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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; HGNC:1884; CFTR; Simple; p.Gly542Ter (c.1624G>T); ClinVar=VCV000007115; Zygosity=Heterozygous (Coriell=GM00504).
- Mutation; HGNC; HGNC:1884; CFTR; Simple; p.His609Arg (c.1826A>G); ClinVar=VCV000053398; Zygosity=Heterozygous (Coriell=GM00504).
|
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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 |
19Y |
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| Category |
Transformed cell line |
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| Publications | DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) 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) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM00504
|
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| Cell line databases/resources |
CLO; CLO_0025941
|
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| Encyclopedic resources |
Wikidata; Q54836273
|
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| Entry history |
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| Entry creation | 11-Feb-2013 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 18 |
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