ID   SYSUSCi001-A
AC   CVCL_B5FX
SY   CC-hiPSCs
DR   BioSamples; SAMEA9927008
DR   hPSCreg; SYSUSCi001-A
DR   Wikidata; Q110433275
RX   PubMed=34995847;
CC   From: Center for Stem Cell Biology and Tissue Engineering, Sun Yat-sen University; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 1040; BFSP1; Simple; p.Glu269Lys (c.805G>A); Zygosity=Heterozygous (PubMed=34995847).
CC   Sequence variation: Mutation; HGNC; 10012; RHO; Simple; p.Leu125Pro (c.374T>C); Zygosity=Heterozygous (PubMed=34995847).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C98888; Congenital cataract
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 4
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RX   PubMed=34995847; DOI=10.1016/j.scr.2021.102644;
RA   Chen F.-Y., Wang T., Yang Y.-T., Huang Z.-Q., Dong Y.-Y., Zhang R.-J.,
RA   Chen J., Zhou Q.;
RT   "Generation of an induced pluripotent stem cell line (SYSUSCi001-A)
RT   from a congenital cataract patient carrying heterozygous mutations in
RT   BFSP1 and RHO.";
RL   Stem Cell Res. 59:102644-102644(2022).
//