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Cellosaurus PENN144i-M7-16 (CVCL_EL44)

[Text version]
Cell line name PENN144i-M7-16
Synonyms Penn144i-M7-16; iPS-M7-SeV16
Accession CVCL_EL44
Resource Identification Initiative To cite this cell line use: PENN144i-M7-16 (RRID:CVCL_EL44)
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; 7467; MTTP; Simple; p.Arg46Gly (c.136C>G); ClinVar=VCV000347020; Zygosity=Homozygous (WiCell=penn144i-m7-16).
Disease Abetalipoproteinemia (NCIt: C84525)
Abetalipoproteinemia (ORDO: Orphanet_14)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EL50 ! PENN150i-M7-9
Sex of cell Male
Age at sampling 60Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) WiCell; penn144i-m7-16
Cell line databases/resources SKIP; SKIP005086
Encyclopedic resources Wikidata; Q54947116
Entry history
Entry creation26-Sep-2016
Last entry update10-Sep-2024
Version number16