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Cellosaurus CIPFi001-A (CVCL_UF40)

[Text version]

Cell line name CIPFi001-A
Synonyms LCA-FiPS4F1
Accession CVCL_UF40
Resource Identification Initiative To cite this cell line use: CIPFi001-A (RRID:CVCL_UF40)
Comments From: Principe Felipe Centro de Investigacion; Valencia, Spain.
Sequence variations Homozygous for AIPL1 p.Cys89Arg (c.265T>C) (PubMed=30366342).
Disease Leber congenital amaurosis (NCIt: C129075)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=30366342; DOI=10.1016/j.scr.2018.10.012
Lukovic D., Artero Castro A., Leon M., Del Buey Furio V., Corton M., Ayuso C., Erceg S.
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1.
Stem Cell Res. 33:151-155(2018)

Cross-references
Cell line databases/resources hPSCreg; CIPFi001-A
Entry history
Entry creation13-Nov-2018
Last entry updated13-Nov-2018
Version number1