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Cellosaurus PENN169i-M17-3 (CVCL_EL69)

[Text version]
Cell line name PENN169i-M17-3
Synonyms Penn169i-M17-3; iPS-M17-SeV3
Accession CVCL_EL69
Resource Identification Initiative To cite this cell line use: PENN169i-M17-3 (RRID:CVCL_EL69)
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.Arg1270Ter (c.3808C>T); dbSNP=rs575627531; Zygosity=Heterozygous (WiCell=penn169i-m17-3).
  • Mutation; HGNC; 29; ABCA1; Unexplicit; IVS32-25G>C; Zygosity=Heterozygous (WiCell=penn169i-m17-3).
Disease Tangier disease (NCIt: C85182)
Tangier disease (ORDO: Orphanet_31150)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EL70 ! PENN170i-M17-4
Sex of cell Male
Age at sampling 43Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; penn169i-m17-3
Cell line databases/resources SKIP; SKIP005072
Encyclopedic resources Wikidata; Q54947158
Entry history
Entry creation26-Sep-2016
Last entry update05-Oct-2023
Version number15