ID   TVGH-iPSC-013-05
AC   CVCL_QY15
SY   TVGHi003-A
DR   BCRC; SC81073
DR   hPSCreg; TVGHi003-A
DR   SKIP; SKIP005669
DR   Wikidata; Q54973397
RX   PubMed=29674172;
RX   PubMed=30736915;
CC   From: Taipei Veterans General Hospital; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 10457; RS1; Simple; p.Trp163Ter (c.488G>A); ClinVar=VCV001687470; Zygosity=Hemizygous (PubMed=29674172).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75483; Juvenile X-linked retinoschisis
DI   ORDO; Orphanet_792; X-linked retinoschisis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29674172; DOI=10.1016/j.scr.2018.04.005;
RA   Peng C.-H., Huang K.-C., Lu H.-E., Syu S.-H., Yarmishyn A.A., Lu J.-F.,
RA   Buddhakosai W., Lin T.-C., Hsu C.-C., Hwang D.-K., Shen C.-N.,
RA   Chen S.-J., Chiou S.-H.;
RT   "Generation of induced pluripotent stem cells from a patient with
RT   X-linked juvenile retinoschisis.";
RL   Stem Cell Res. 29:152-156(2018).
//
RX   PubMed=30736915; DOI=10.1016/j.scr.2019.101388;
RA   Peng C.-H., Huang K.-C., Lu H.-E., Syu S.-H., Yarmishyn A.A., Lu J.-F.,
RA   Buddhakosai W., Lin T.-C., Hsu C.-C., Hwang D.-K., Shen C.-N.,
RA   Chen S.-J., Chiou S.-H.;
RT   "Corrigendum to 'Generation of induced pluripotent stem cells from a
RT   patient with X-linked juvenile retinoschisis' [Stem Cell Res.
RT   29(2018): 152-156].";
RL   Stem Cell Res. 34:101388-101388(2019).
//