| Cell line name |
GM04320 |
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| Synonyms |
GM 4320 |
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| Accession |
CVCL_0M23 |
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| Resource Identification Initiative |
To cite this cell line use: GM04320 (RRID:CVCL_0M23) |
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| Comments |
Population: Caucasian.
Caution: Was originally thought to be homozygous for CFTR p.Phe508del and is still described as such in Coriell.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620. |
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| Sequence variations |
- Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Ile507del (c.1516_1518ATC[1]) (c.1519_1521delATC); ClinVar=VCV000007106; Zygosity=Heterozygous (PubMed=25772471).
- Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Phe508del (c.1521_1523delCTT); ClinVar=VCV000007105; Zygosity=Heterozygous (PubMed=25772471).
|
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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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| Hierarchy |
Children:
|
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| Sex of cell |
Male |
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| Age at sampling |
17Y |
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| Category |
Finite cell line |
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| Publications | PubMed=2445735; DOI=10.1016/S0021-9258(18)47730-7
Pei-Yuan Lin, Eric Gruenstein;
Identification of a defective cAMP-stimulated Cl- channel in cystic fibrosis fibroblasts.
J. Biol. Chem. 262:15345-15347(1987) 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=25772471; DOI=10.1016/j.stemcr.2015.02.005; PMCID=PMC4400651
Ana M. Crane, Philipp Kramer, Jacquelin H. Bui-Griffith, Wook Joon Chung, Xuan Shirley Li, Manuel Leonardo Gonzalez-Garay, Finn Hawkins, Wei Liao, Daniela Mora, Sangbum Choi, Jian-Bin Wang ...Show all 19 authors... , Helena C. Sun, David E. Paschon, Dmitry Y. Guschin, Phillip D. Gregory, Darrell N. Kotton, Michael C. Holmes, Eric J. Sorscher, Brian R. Davis; Show fewer authors
Targeted correction and restored function of the CFTR gene in cystic fibrosis induced pluripotent stem cells.
Stem Cell Reports 4:569-577(2015) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM04320
|
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| Cell line databases/resources |
CLO; CLO_0019529
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| Encyclopedic resources |
Wikidata; Q54838481
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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 | 16 |
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