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Cellosaurus PENN139i-M5-4 (CVCL_EL39)

[Text version]
Cell line name PENN139i-M5-4
Synonyms Penn139i-M5-4; iPS-M5-SeV4
Accession CVCL_EL39
Resource Identification Initiative To cite this cell line use: PENN139i-M5-4 (RRID:CVCL_EL39)
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; 6547; LDLR; Unexplicit; Ex3-6del; Zygosity=Homozygous (WiCell=penn139i-m5-4).
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_EL67 ! PENN167i-M5-3
Sex of cell Female
Age at sampling 27Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; penn139i-m5-4
Cell line databases/resources SKIP; SKIP005082
Encyclopedic resources Wikidata; Q54947109
Entry history
Entry creation26-Sep-2016
Last entry update05-Oct-2023
Version number17