ID   ZSZOCi001-A
AC   CVCL_D0QH
DR   BioSamples; SAMEA113541684
DR   hPSCreg; ZSZOCi001-A
DR   Wikidata; Q123034007
RX   PubMed=37269665;
CC   From: Zhongshan Ophthalmic Center, Sun Yat-sen University; Guangzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 2195; COL18A1; Simple; c.3929-2637_4461+597delinsTC; Zygosity=Heterozygous (PubMed=37269665).
CC   Sequence variation: Mutation; HGNC; 2195; COL18A1; Simple; c.4259-28_4265del; Zygosity=Heterozygous (PubMed=37269665).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C201594; Knobloch syndrome 1
DI   ORDO; Orphanet_1571; Knobloch syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37269665; DOI=10.1016/j.scr.2023.103131;
RA   Jiang Z.-X., Sun W.-M., Zhang Q.-J., Wang P.-F.;
RT   "Generation of an induced pluripotent stem cell line (ZSZOCi001-A)
RT   from a patient with Knobloch syndrome caused by biallelic mutations
RT   in the gene COL18A1.";
RL   Stem Cell Res. 70:103131-103131(2023).
//