ID   SUi003-B
AC   CVCL_A4YV
SY   iPSC-SZ-HU-PROB 2
DR   hPSCreg; SUi003-B
DR   Wikidata; Q107116979
CC   From: Semmelweis University; Budapest; Hungary.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6316; KHSRP; Simple; p.Gly403Cys (c.1207G>T) (chr19:g.6416869C>A); Zygosity=Heterozygous; Note=De novo mutation (from autologous cell line SUi003-A).
CC   Sequence variation: Mutation; HGNC; HGNC:6329; KIR2DL1; Simple; c.412A>T (chr19:g.55286658A>T); Zygosity=Heterozygous; Note=De novo mutation (from autologous cell line SUi003-A).
CC   Sequence variation: Mutation; HGNC; HGNC:18531; LRRC7; Simple; p.Val1158Ile (c.3472G>A) (chr1:g.70505093G>A); Zygosity=Heterozygous; Note=De novo mutation (from autologous cell line SUi003-A).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3362; Schizophrenia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4YU ! SUi003-A
SX   Male
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 7
//