ID   TVGH-iPSC-010-09
AC   CVCL_RP84
SY   TVGHi001-A
DR   BCRC; SC81071
DR   hPSCreg; TVGHi001-A
DR   SKIP; SKIP003129
DR   SKIP; SKIP005667
DR   Wikidata; Q54973395
RX   PubMed=29427840;
CC   From: Taipei Veterans General Hospital; Taipei; Taiwan.
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; HGNC:7459; MT-ND4; Simple; p.Arg340His (m.11778G>A); ClinVar=VCV000009708; Zygosity=Unspecified (PubMed=29427840).
CC   Discontinued: hPSCreg; TVGHi001-A; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): PubMed=29427840
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 11,12
ST   D16S539: 10,11
ST   D18S51: 11,14
ST   D19S433: 14,14.2
ST   D21S11: 28,30.2
ST   D2S1338: 19,25
ST   D3S1358: 15,16
ST   D5S818: 10,12
ST   D7S820: 11,12
ST   D8S1179: 11,16
ST   FGA: 23,25
ST   TH01: 7,10
ST   TPOX: 8,11
ST   vWA: 17,19
DI   NCIt; C84808; Leber hereditary optic atrophy
DI   ORDO; Orphanet_104; Leber hereditary optic neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   61Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
RX   PubMed=29427840; DOI=10.1016/j.scr.2018.01.029;
RA   Lu H.-E., Yang Y.-P., Chen Y.-T., Wu Y.-R., Wang C.-L., Tsai F.-T.,
RA   Hwang D.-K., Lin T.-C., Chen S.-J., Wang A.-G., Hsieh P.C.-H.,
RA   Chiou S.-H.;
RT   "Generation of patient-specific induced pluripotent stem cells from
RT   Leber's hereditary optic neuropathy.";
RL   Stem Cell Res. 28:56-60(2018).
//