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 D.J.; University of Pennsylvania; Philadelphia; USA.
CC   Population: Asian.
CC   Sequence variation: Mutation; 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: 05-10-23; Version: 17
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