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Cellosaurus GM11423 (CVCL_L746)

[Text version]
Cell line name GM11423
Accession CVCL_L746
Resource Identification Initiative To cite this cell line use: GM11423 (RRID:CVCL_L746)
Comments Population: Caucasian.
Derived from site: In situ; Liver; UBERON=UBERON_0002107.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:8941; SERPINA1; Simple; p.Glu366Lys (c.1096G>A); ClinVar=VCV000017967; Zygosity=Homozygous; Note=Z allele (Coriell=GM11423).
Disease Alpha-1 antitrypsin deficiency (NCIt: C84397)
Alpha-1 antitrypsin deficiency (ORDO: Orphanet_60)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4M
Category Finite cell line
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=20715179; DOI=10.1002/stem.495; PMCID=PMC3422663
Somers A., Jean J.-C., Sommer C.A., Omari A., Ford C.C., Mills J.A., Ying L., Gianotti-Sommer A., Jean J.M., Smith B.W., Lafyatis R., Demierre M.-F., Weiss D.J., French D.L., Gadue P., Murphy G.J., Mostoslavsky G., Kotton D.N.
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)

Cross-references
Cell line collections (Providers) Coriell; GM11423
Cell line databases/resources CLO; CLO_0020874
Encyclopedic resources Wikidata; Q54845083
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number16