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Cellosaurus JLUEYEi001-A (CVCL_A5QB)

[Text version]
Cell line name JLUEYEi001-A
Synonyms SticklerIPSC1
Accession CVCL_A5QB
Resource Identification Initiative To cite this cell line use: JLUEYEi001-A (RRID:CVCL_A5QB)
Comments From: Eye Center of Second Hospital, Jilin University; Changchun; China.
Population: Mongolian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2200; COL2A1; Unexplicit; IVS22-1C>T; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=33647874).
Disease Stickler syndrome type 1 (NCIt: C168733)
Stickler syndrome type 1 (ORDO: Orphanet_90653)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=33647874; DOI=10.1016/j.scr.2021.102255
Wu H., Yang B., Lv Z.-S., Liu L.-D., Gong W.-Q., Zhang S.-K.
Generation and characterization of human induced pluripotent stem cells line JLUEYEi001-A from a 45 year old female with Stickler syndrome.
Stem Cell Res. 53:102255-102255(2021)

Cross-references
Cell line databases/resources hPSCreg; JLUEYEi001-A
Encyclopedic resources Wikidata; Q107115496
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number4