ID   SDQLCHi010-A
AC   CVCL_YK74
DR   hPSCreg; SDQLCHi010-A
DR   Wikidata; Q98129467
RX   PubMed=31707209;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 8620; PAX6; Simple; p.Ser74Gly (c.220A>G); Zygosity=Heterozygous (PubMed=31707209).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C101268; Bilateral optic nerve hypoplasia
DI   ORDO; Orphanet_137902; Isolated optic nerve hypoplasia/aplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 6
//
RX   PubMed=31707209; DOI=10.1016/j.scr.2019.101611;
RA   Zhang H.-Y., Ma Y.-Y., Yu S.-J., Yang X.-M., Li Y., Guan J.-Y.,
RA   Dong R., Gai Z.-T., Liu Y.;
RT   "Establishment of a human iPSC line (SDQLCHi010-A) from a patient with
RT   optic nerve malformation carrying a heterozygous mutation in PAX6
RT   gene.";
RL   Stem Cell Res. 41:101611-101611(2019).
//