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; 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: 19-12-24; Version: 11
//
RX   PubMed=29034879; DOI=10.1016/j.scr.2017.07.030;
RA   Tan, Ghee Wan
RA   Kondo, Takayuki
RA   Murakami, Nagahisa
RA   Imamura, Keiko
RA   Enami, Takako
RA   Tsukita, Kayoko
RA   Shibukawa, Ran
RA   Funayama, Misato
RA   Matsumoto, Riki
RA   Ikeda, Akio
RA   Takahashi, Ryosuke
RA   Inoue, Haruhisa
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).
//