Home  |  Contact

Cellosaurus SYSUSCi001-A (CVCL_B5FX)

[Text version]
Cell line name SYSUSCi001-A
Synonyms CC-hiPSCs
Accession CVCL_B5FX
Resource Identification Initiative To cite this cell line use: SYSUSCi001-A (RRID:CVCL_B5FX)
Comments From: Center for Stem Cell Biology and Tissue Engineering, Sun Yat-sen University; Guangzhou; China.
Population: Chinese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1040; BFSP1; Simple; p.Glu269Lys (c.805G>A); Zygosity=Heterozygous (PubMed=34995847).
  • Mutation; HGNC; 10012; RHO; Simple; p.Leu125Pro (c.374T>C); Zygosity=Heterozygous (PubMed=34995847).
Disease Congenital cataract (NCIt: C98888)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=34995847; DOI=10.1016/j.scr.2021.102644
Chen F.-Y., Wang T., Yang Y.-T., Huang Z.-Q., Dong Y.-Y., Zhang R.-J., Chen J., Zhou Q.
Generation of an induced pluripotent stem cell line (SYSUSCi001-A) from a congenital cataract patient carrying heterozygous mutations in BFSP1 and RHO.
Stem Cell Res. 59:102644-102644(2022)

Cross-references
Cell line databases/resources hPSCreg; SYSUSCi001-A
Biological sample resources BioSamples; SAMEA9927008
Encyclopedic resources Wikidata; Q110433275
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4