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Cellosaurus ZSZOCi001-A (CVCL_D0QH)

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Cell line name ZSZOCi001-A
Accession CVCL_D0QH
Resource Identification Initiative To cite this cell line use: ZSZOCi001-A (RRID:CVCL_D0QH)
Comments From: Zhongshan Ophthalmic Center, Sun Yat-sen University; Guangzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2195; COL18A1; Simple; c.3929-2637_4461+597delinsTC; Zygosity=Heterozygous (PubMed=37269665).
  • Mutation; HGNC; HGNC:2195; COL18A1; Simple; c.4259-28_4265del; Zygosity=Heterozygous (PubMed=37269665).
Disease Knobloch syndrome 1 (NCIt: C201594)
Knobloch syndrome (ORDO: Orphanet_1571)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 14Y
Category Induced pluripotent stem cell
Publications

PubMed=37269665; DOI=10.1016/j.scr.2023.103131
Zi-Xuan Jiang, Wen-Min Sun, Qing-Jiong Zhang, Pan-Feng Wang;
Generation of an induced pluripotent stem cell line (ZSZOCi001-A) from a patient with Knobloch syndrome caused by biallelic mutations in the gene COL18A1.
Stem Cell Res. 70:103131-103131(2023)

Cross-references
Cell line databases/resources hPSCreg; ZSZOCi001-A
Biological sample resources BioSamples; SAMEA113541684
Encyclopedic resources Wikidata; Q123034007
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3