ID   PENN145i-M16-2
AC   CVCL_EL45
SY   Penn145i-M16-2; M16-SeV2
DR   SKIP; SKIP005069
DR   WiCell; penn145i-m16-2
DR   Wikidata; Q54947117
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: Latino and Native American.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Leu605Glufs*38; Zygosity=Heterozygous (WiCell=penn145i-m16-2).
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Unexplicit; Ex4-6del; Zygosity=Heterozygous (WiCell=penn145i-m16-2).
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_EL68 ! PENN168i-M16-1
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 05-10-23; Version: 17
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