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Cellosaurus PENN168i-M16-1 (CVCL_EL68)

[Text version]
Cell line name PENN168i-M16-1
Synonyms Penn168i-M16-1; M16-SeV1
Accession CVCL_EL68
Resource Identification Initiative To cite this cell line use: PENN168i-M16-1 (RRID:CVCL_EL68)
Comments Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
From: Rader D.J.; University of Pennsylvania; Philadelphia; USA.
Population: Latino and Native American.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Simple; p.Leu605Glufs*38; Zygosity=Heterozygous (WiCell=penn168i-m16-1).
  • Mutation; HGNC; 6547; LDLR; Unexplicit; Ex4-6del; Zygosity=Heterozygous (WiCell=penn168i-m16-1).
Disease Hyperlipoproteinemia, type IIa (NCIt: C123416)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EL45 ! PENN145i-M16-2
Sex of cell Female
Age at sampling 28Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; penn168i-m16-1
Cell line databases/resources SKIP; SKIP005070
Encyclopedic resources Wikidata; Q54947156
Entry history
Entry creation26-Sep-2016
Last entry update05-Oct-2023
Version number17