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Cellosaurus PENN147i-M9-7 (CVCL_EL47)

[Text version]
Cell line name PENN147i-M9-7
Synonyms Penn147i-M9-7; M9-7
Accession CVCL_EL47
Resource Identification Initiative To cite this cell line use: PENN147i-M9-7 (RRID:CVCL_EL47)
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=penn147i-m9-7).
  • Mutation; HGNC; 6547; LDLR; Simple; p.Gly549Asp (c.1646G>A); ClinVar=VCV000003698; Zygosity=Heterozygous (WiCell=penn147i-m9-7).
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_EL71 ! PENN171i-M9-9
Sex of cell Male
Age at sampling 22Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; penn147i-m9-7
Cell line databases/resources SKIP; SKIP005089
Encyclopedic resources Wikidata; Q54947119
Entry history
Entry creation26-Sep-2016
Last entry update10-Sep-2024
Version number18