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Cellosaurus LEIi011-A (CVCL_XI39)

[Text version]

Cell line name LEIi011-A
Synonyms 1466ips1
Accession CVCL_XI39
Resource Identification Initiative To cite this cell line use: LEIi011-A (RRID:CVCL_XI39)
Comments From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
Population: Singaporian Chinese.
Sequence variations Heterozygous for RCBTB1 p.Gly57Glufs*12 (c.170delG) and p.Asn236Thrfs*11 (c.707delA) (PubMed=31494449).
Disease Retinal dystrophy with or without extraocular anomalies (NCIt: C164155)
Reticular dystrophy of the retinal pigment epithelium (ORDO: Orphanet_99002)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_XI40 ! LEIi011-B
CVCL_XI41 ! LEIi011-C
Sex of cell Female
Age at sampling 45Y
Category Induced pluripotent stem cell

PubMed=31494449; DOI=10.1016/j.scr.2019.101549
Huang Z., Zhang D., Chen S.-C., Thompson J.A., McLaren T., Lamey T., De Roach J.N., McLenachan S., Chen F.K.
Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations.
Stem Cell Res. 40:101549-101549(2019)

Cell line databases/resources hPSCreg; LEIi011-A
Biological sample resources BioSamples; SAMEA6014779
Entry history
Entry creation19-Dec-2019
Last entry updated12-Mar-20
Version number2