ID   TVGH-iPSC-012-04
AC   CVCL_QY14
SY   TVGHi002-A
DR   BCRC; SC81072
DR   hPSCreg; TVGHi002-A
DR   SKIP; SKIP005668
DR   Wikidata; Q54973396
RX   PubMed=29660606;
CC   From: Taipei Veterans General Hospital; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; 12703; BEST1; Simple; p.Glu119Glnfs*3 (c.346_355dupGGCAAGGACG); Zygosity=Unspecified (PubMed=29660606).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118788; Vitelliform macular dystrophy
DI   ORDO; Orphanet_1243; Best vitelliform macular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=29660606; DOI=10.1016/j.scr.2018.03.019;
RA   Hsu C.-C., Lu H.-E., Chuang J.-H., Ko Y.-L., Tsai Y.-C., Tai H.-Y.,
RA   Yarmishyn A.A., Hwang D.-K., Wang M.-L., Yang Y.-P., Chen S.-J.,
RA   Peng C.-H., Chiou S.-H., Lin T.-C.;
RT   "Generation of induced pluripotent stem cells from a patient with Best
RT   dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation.";
RL   Stem Cell Res. 29:134-138(2018).
//