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Cellosaurus SDQLCHi010-A (CVCL_YK74)

[Text version]
Cell line name SDQLCHi010-A
Accession CVCL_YK74
Resource Identification Initiative To cite this cell line use: SDQLCHi010-A (RRID:CVCL_YK74)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 8620; PAX6; Simple; p.Ser74Gly (c.220A>G); Zygosity=Heterozygous (PubMed=31707209).
Disease Bilateral optic nerve hypoplasia (NCIt: C101268)
Isolated optic nerve hypoplasia/aplasia (ORDO: Orphanet_137902)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=31707209; DOI=10.1016/j.scr.2019.101611
Zhang H.-Y., Ma Y.-Y., Yu S.-J., Yang X.-M., Li Y., Guan J.-Y., Dong R., Gai Z.-T., Liu Y.
Establishment of a human iPSC line (SDQLCHi010-A) from a patient with optic nerve malformation carrying a heterozygous mutation in PAX6 gene.
Stem Cell Res. 41:101611-101611(2019)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi010-A
Encyclopedic resources Wikidata; Q98129467
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number6