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Cellosaurus LEIi011-C (CVCL_XI41)

[Text version]
Cell line name LEIi011-C
Synonyms 1466ips3
Accession CVCL_XI41
Resource Identification Initiative To cite this cell line use: LEIi011-C (RRID:CVCL_XI41)
Comments From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
Population: Chinese; Singaporian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 18243; RCBTB1; Simple; p.Gly57Glufs*12 (c.170delG); ClinVar=VCV000840798; Zygosity=Heterozygous (PubMed=31494449).
  • Mutation; HGNC; 18243; RCBTB1; Simple; p.Asn236Thrfs*11 (c.707delA); ClinVar=VCV000224622; Zygosity=Heterozygous (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_XI39 ! LEIi011-A
CVCL_XI40 ! LEIi011-B
Sex of cell Female
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=31494449; DOI=10.1016/j.scr.2019.101549
Huang Z.-Q., Zhang D., Chen S.-C., Thompson J.A., McLaren T.L., Lamey T.M., 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)

Cross-references
Cell line databases/resources hPSCreg; LEIi011-C
Encyclopedic resources Wikidata; Q95982063
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9