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Cellosaurus PENN143i-M10-11 (CVCL_EL43)

[Text version]
Cell line name PENN143i-M10-11
Synonyms Penn143i-M10-11; iPS-M10-SeV11; TD-2 iPSC-1
Accession CVCL_EL43
Resource Identification Initiative To cite this cell line use: PENN143i-M10-11 (RRID:CVCL_EL43)
Comments Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
From: Rader D.J.; University of Pennsylvania; Philadelphia; USA.
Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 29; ABCA1; Simple; p.Glu1005Ter (c.3013G>T); Zygosity=Homozygous (PubMed=25904599).
Disease Tangier disease (NCIt: C85182)
Tangier disease (ORDO: Orphanet_31150)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EL61 ! PENN161i-M10-5
Sex of cell Male
Age at sampling 20Y
Category Induced pluripotent stem cell
Publications

PubMed=25904599; DOI=10.1161/CIRCRESAHA.117.305860
Zhang H.-R., Xue C.-Y., Shah R., Bermingham K., Hinkle C.C., Li W.-J., Rodrigues A., Tabita-Martinez J., Millar J.S., Cuchel M., Pashos E.E., Liu Y., Yan R.-L., Yang W.-L., Gosai S.J., VanDorn D., Chou S.T., Gregory B.D., Morrisey E.E., Li M.-Y., Rader D.J., Reilly M.P.
Functional analysis and transcriptomic profiling of iPSC-derived macrophages and their application in modeling Mendelian disease.
Circ. Res. 117:17-28(2015)

Cross-references
Cell line collections (Providers) WiCell; penn143i-m10-11
Cell line databases/resources SKIP; SKIP005059
Encyclopedic resources Wikidata; Q54947115
Entry history
Entry creation26-Sep-2016
Last entry update29-Jun-2023
Version number14