ID   PENN169i-M17-3
AC   CVCL_EL69
SY   Penn169i-M17-3; iPS-M17-SeV3
DR   SKIP; SKIP005072
DR   WiCell; penn169i-m17-3
DR   Wikidata; Q54947158
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=penn169i-m17-3).
CC   Sequence variation: Mutation; HGNC; 29; ABCA1; Unexplicit; IVS32-25G>C; Zygosity=Heterozygous (WiCell=penn169i-m17-3).
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_EL70 ! PENN170i-M17-4
SX   Male
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 05-10-23; Version: 15
//