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Cellosaurus PENN157i-M2-6 (CVCL_EL57)

[Text version]
Cell line name PENN157i-M2-6
Synonyms Penn157i-M2-6; iPS-M2-SeV6; TD-1 iPSC-1
Accession CVCL_EL57
Resource Identification Initiative To cite this cell line use: PENN157i-M2-6 (RRID:CVCL_EL57)
Comments Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 29; ABCA1; Simple; p.Lys531Asn; Zygosity=Heterozygous (PubMed=25904599).
  • Mutation; HGNC; 29; ABCA1; Simple; p.Ser2046Arg; Zygosity=Heterozygous (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_EL65 ! PENN165i-M2-21
Sex of cell Male
Age at sampling 21Y
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; penn157i-m2-6
Cell line databases/resources SKIP; SKIP005076
Encyclopedic resources Wikidata; Q54947144
Entry history
Entry creation26-Sep-2016
Last entry update29-Jun-2023
Version number13