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Cellosaurus LEIi016-A (CVCL_A8MG)

[Text version]

Cell line name LEIi016-A
Synonyms 1418ips3
Accession CVCL_A8MG
Resource Identification Initiative To cite this cell line use: LEIi016-A (RRID:CVCL_A8MG)
Comments From: Lions Eye Institute, University of Western Australia; Nedlands; Australia.
Population: Caucasian.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 2343; CRB1; Simple; p.Ile852Thr (c.2555T>C); ClinVar=VCV000099883; Zygosity=Heterozygous (PubMed=34034222).
  • Mutation; HGNC; 2343; CRB1; Simple; p.Asp1005Val (c.3014A>T); ClinVar=VCV000846589; Zygosity=Heterozygous (PubMed=34034222).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A8MH ! LEIi016-B
Sex of cell Male
Age at sampling 11Y
Category Induced pluripotent stem cell
Publications

PubMed=34034222; DOI=10.1016/j.scr.2021.102403
Moon S.Y., Zhang D., Chen S.-C., Lamey T.M., Thompson J.A., McLaren T.L., De Roach J.N., Chen F.K., McLenachan S.
Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1.
Stem Cell Res. 54:102403-102403(2021)

Cross-references
Cell line databases/resources hPSCreg; LEIi016-A
Encyclopedic resources Wikidata; Q108820782
Entry history
Entry creation23-Sep-2021
Last entry update17-Mar-2022
Version number3