ID PENN167i-M5-3 AC CVCL_EL67 SY Penn167i-M5-3; iPS-M5-PB-SeV3 DR SKIP; SKIP005081 DR WiCell; penn167i-m5-3 DR Wikidata; Q54947155 CC Part of: Next Generation Genetic Association studies (Next Gen) program cell lines. CC From: Rader, Daniel James; University of Pennsylvania; Philadelphia; USA. CC Population: Asian. CC Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Unexplicit; Ex3-6del; Zygosity=Homozygous (WiCell=penn167i-m5-3). CC Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. DI NCIt; C123416; Hyperlipoproteinemia, type IIa DI ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia OX NCBI_TaxID=9606; ! Homo sapiens (Human) OI CVCL_EL39 ! PENN139i-M5-4 SX Female AG 27Y CA Induced pluripotent stem cell DT Created: 26-09-16; Last updated: 19-12-24; Version: 19 //