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Cellosaurus PENN171i-M9-9 (CVCL_EL71)

[Text version]
Cell line name PENN171i-M9-9
Synonyms Penn171i-M9-9; M9-9
Accession CVCL_EL71
Resource Identification Initiative To cite this cell line use: PENN171i-M9-9 (RRID:CVCL_EL71)
Comments Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
From: Rader, Daniel James; University of Pennsylvania; Philadelphia; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Simple; p.Trp483Ter (c.1448G>A); ClinVar=VCV000226356; Zygosity=Heterozygous (WiCell=penn171i-m9-9).
  • Mutation; HGNC; 6547; LDLR; Simple; p.Gly549Asp (c.1646G>A); ClinVar=VCV000003698; Zygosity=Heterozygous (WiCell=penn171i-m9-9).
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_EL47 ! PENN147i-M9-7
Sex of cell Male
Age at sampling 22Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; penn171i-m9-9
Cell line databases/resources SKIP; SKIP005090
Encyclopedic resources Wikidata; Q54947160
Entry history
Entry creation26-Sep-2016
Last entry update10-Sep-2024
Version number18