Cellosaurus cell line LEIi011-A (CVCL

Cellosaurus LEIi011-A (CVCL_XI39)

Cross-references
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: Chinese; Singaporian. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:18243; RCBTB1; Simple; p.Gly57Glufs12 (c.170delG); ClinVar=VCV000840798; Zygosity=Heterozygous (PubMed=31494449). Mutation; HGNC; HGNC:18243; RCBTB1; Simple; p.Asn236Thrfs11 (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_XI40 ! LEIi011-B CVCL_XI41 ! LEIi011-C
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)
Cell line databases/resources	hPSCreg; LEIi011-A
Biological sample resources	BioSamples; SAMEA6014779
Encyclopedic resources	Wikidata; Q95982061
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10