ID   PENN171i-M9-9
AC   CVCL_EL71
SY   Penn171i-M9-9; M9-9
DR   SKIP; SKIP005090
DR   WiCell; penn171i-m9-9
DR   Wikidata; Q54947160
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: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Trp483Ter (c.1448G>A); ClinVar=VCV000226356; Zygosity=Heterozygous (WiCell=penn171i-m9-9).
CC   Sequence variation: Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Gly549Asp (c.1646G>A); ClinVar=VCV000003698; Zygosity=Heterozygous (WiCell=penn171i-m9-9).
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_EL47 ! PENN147i-M9-7
SX   Male
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 19
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