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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; TD-1-3; M10-11
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, Daniel James; University of Pennsylvania; Philadelphia; USA.
Population: Asian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:29; ABCA1; Simple; p.Glu1005Ter (c.3013G>T); Zygosity=Homozygous (PubMed=25904599; PubMed=28330813).
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; PMCID=PMC4565503
Han-Rui Zhang, Chen-Yi Xue, Rhia Shah, Kate Bermingham, Christine C. Hinkle, Wen-Jun Li, Amrith Rodrigues, Jennifer Tabita-Martinez, John S. Millar, Marina Cuchel, Evanthia E. Pashos ...Show all 22 authors... , Ying Liu, Rui-Lan Yan, Wen-Li Yang, Sager J. Gosai, Daniel VanDorn, Stella T. Chou, Brian D. Gregory, Edward E. Morrisey, Ming-Yao Li, Daniel James Rader, Muredach Patrick Reilly; Show fewer authors
Functional analysis and transcriptomic profiling of iPSC-derived macrophages and their application in modeling Mendelian disease.
Circ. Res. 117:17-28(2015)

PubMed=28330813; DOI=10.1016/j.ebiom.2017.03.018; PMCID=PMC5405159
Xin Bi, Evanthia E. Pashos, Marina Cuchel, Nicholas N. Lyssenko, Mayda Hernandez, Antonino Picataggi, James McParland, Wen-Li Yang, Ying Liu, Rui-Lan Yan, Christopher Yu ...Show all 16 authors... , Stephanie L. DerOhannessian, Michael C. Phillips, Edward E. Morrisey, Stephen Alexander Duncan, Daniel James Rader; Show fewer authors
ATP-binding cassette transporter A1 deficiency in human induced pluripotent stem cell-derived hepatocytes abrogates HDL biogenesis and enhances triglyceride secretion.
EBioMedicine 18:139-145(2017)

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 update10-Apr-2025
Version number17