ID   PENN150i-M7-9
AC   CVCL_EL50
SY   Penn150i-M7-9; iPS-M7-PB-SeV9
DR   SKIP; SKIP005085
DR   WiCell; penn150i-m7-9
DR   Wikidata; Q54947123
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:7467; MTTP; Simple; p.Arg46Gly (c.136C>G); ClinVar=VCV000347020; Zygosity=Homozygous (WiCell=penn150i-m7-9).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84525; Abetalipoproteinemia
DI   ORDO; Orphanet_14; Abetalipoproteinemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_EL44 ! PENN144i-M7-16
SX   Male
AG   60Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 17
//