ID   CIRAi002-A
AC   CVCL_QX85
SY   HPS1732
DR   hPSCreg; CIRAi002-A
DR   RCB; HPS1732
DR   Wikidata; Q54813417
RX   PubMed=29034879;
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 6572; LGI1; Simple; p.Ser473Leu (c.1418C>T); ClinVar=VCV000208480; Zygosity=Heterozygous (PubMed=29034879).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29034879
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 8,11
ST   D16S539: 9,12
ST   D18S51: 13,23
ST   D19S433: 14,15.2
ST   D21S11: 29,30
ST   D2S1338: 19,24
ST   D3S1358: 15,16
ST   D5S818: 12,13
ST   D7S820: 12
ST   D8S1179: 12,13
ST   FGA: 21,22
ST   TH01: 6,9
ST   TPOX: 8,12
ST   vWA: 17
DI   NCIt; C141441; Autosomal dominant lateral temporal lobe epilepsy
DI   ORDO; Orphanet_101046; Autosomal dominant epilepsy with auditory features
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 15-11-17; Last updated: 29-06-23; Version: 10
//
RX   PubMed=29034879; DOI=10.1016/j.scr.2017.07.030;
RA   Tan G.W., Kondo T., Murakami N., Imamura K., Enami T., Tsukita K.,
RA   Shibukawa R., Funayama M., Matsumoto R., Ikeda A., Takahashi R.,
RA   Inoue H.;
RT   "Induced pluripotent stem cells derived from an autosomal dominant
RT   lateral temporal epilepsy (ADLTE) patient carrying S473L mutation in
RT   leucine-rich glioma inactivated 1 (LGI1).";
RL   Stem Cell Res. 24:12-15(2017).
//