ID   SUi003-A
AC   CVCL_A4YU
SY   iPSC-SZ-HU-PROB 1
DR   hPSCreg; SUi003-A
DR   Wikidata; Q107116977
RX   PubMed=33503521;
CC   From: Semmelweis University; Budapest; Hungary.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6316; KHSRP; Simple; p.Gly403Cys (c.1207G>T) (chr19:g.6416869C>A); Zygosity=Heterozygous; Note=De novo mutation (PubMed=33503521).
CC   Sequence variation: Mutation; HGNC; 6329; KIR2DL1; Simple; c.412A>T (chr19:g.55286658A>T); Zygosity=Heterozygous; Note=De novo mutation (PubMed=33503521).
CC   Sequence variation: Mutation; HGNC; 18531; LRRC7; Simple; p.Val1158Ile (c.3472G>A) (chr1:g.70505093G>A); Zygosity=Heterozygous; Note=De novo mutation (PubMed=33503521).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C3362; Schizophrenia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A4YV ! SUi003-B
SX   Male
AG   24Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 30-01-24; Version: 5
//
RX   PubMed=33503521; DOI=10.1016/j.scr.2020.102140;
RA   Hathy E., Szabo E., Vincze K., Haltrich I., Kiss E., Varga N.,
RA   Erdei Z., Varady G., Homolya L., Apati A., Rethelyi J.M.;
RT   "Generation of multiple iPSC clones from a male schizophrenia patient
RT   carrying de novo mutations in genes KHSRP, LRRC7, and KIR2DL1, and
RT   his parents.";
RL   Stem Cell Res. 51:102140-102140(2021).
//