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Cellosaurus LEIi004-A-1 (CVCL_VE94)

[Text version]

Cell line name LEIi004-A-1
Synonyms L4-A-1
Accession CVCL_VE94
Resource Identification Initiative To cite this cell line use: LEIi004-A-1 (RRID:CVCL_VE94)
Comments From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
Characteristics: The CLN3 p.Ala59Thr (c.175G>A) mutation of the donor has been corrected by CRISPR/Cas9.
Sequence variations Heterozygous for CLN3 c.461-280_677+382del (1.02-kb del) (PubMed=29753273).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_VE61 (LEIi004-A)
Sex of cell Female
Age at sampling 52Y
Category Induced pluripotent stem cell

PubMed=29753273; DOI=10.1016/j.scr.2018.04.014
Zhang X., Zhang D., Chen S.-C., Lamey T., Thompson J.A., McLaren T., De Roach J.N., Chen F.K., McLenachan S.
Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line.
Stem Cell Res. 29:245-249(2018)

Cell line databases/resources hPSCreg; LEIi004-A-1
Biological sample resources BioSamples; SAMEA4760675
Other Wikidata; Q54902438
Entry history
Entry creation14-May-2018
Last entry updated12-Mar-20
Version number4