| Cell line name |
GM11423 |
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| Accession |
CVCL_L746 |
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| Resource Identification Initiative |
To cite this cell line use: GM11423 (RRID:CVCL_L746) |
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| Comments |
Population: Caucasian.
Derived from site: In situ; Liver; UBERON=UBERON_0002107.
Cell type: Fibroblast; CL=CL_0000057. |
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| Sequence variations |
- Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (Coriell=GM11423).
|
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| Disease |
Alpha-1 antitrypsin deficiency (NCIt: C84397)
Alpha-1 antitrypsin deficiency (ORDO: Orphanet_60) |
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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 |
4M |
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| Category |
Finite 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=20715179; DOI=10.1002/stem.495; PMCID=PMC3422663
Aba Somers, Jyh-Chang Jean, Cesar A. Sommer, Amel Omari, Christopher C. Ford, Jason A. Mills, Lei Ying, Andreia Gianotti-Sommer, Jenny M. Jean, Brenden W. Smith, Robert Lafyatis ...Show all 18 authors... , Marie-France Demierre, Daniel J. Weiss, Deborah L. French, Paul Gadue, George J. Murphy, Gustavo Mostoslavsky, Darrell N. Kotton; Show fewer authors
Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette.
Stem Cells 28:1728-1740(2010) |
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| Cross-references |
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| Cell line collections (Providers) |
Coriell; GM11423
|
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| Cell line databases/resources |
CLO; CLO_0020874
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| Encyclopedic resources |
Wikidata; Q54845083
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| Entry history |
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| Entry creation | 06-May-2013 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 16 |
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