ID   PENN170i-M17-4
AC   CVCL_EL70
SY   Penn170i-M17-4; iPS-M17-SeV4
DR   SKIP; SKIP005071
DR   WiCell; penn170i-m17-4
DR   Wikidata; Q54947159
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; 29; ABCA1; Simple; p.Arg1270Ter (c.3808C>T); dbSNP=rs575627531; Zygosity=Heterozygous (WiCell=penn170i-m17-4).
CC   Sequence variation: Mutation; HGNC; 29; ABCA1; Unexplicit; IVS32-25G>C; Zygosity=Heterozygous (WiCell=penn170i-m17-4).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85182; Tangier disease
DI   ORDO; Orphanet_31150; Tangier disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_EL69 ! PENN169i-M17-3
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 05-10-23; Version: 15
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