Cellosaurus cell line LEIi011-B (CVCL

Cellosaurus LEIi011-B (CVCL_XI40)

Cross-references
Cell line name	LEIi011-B
Synonyms	1466ips2
Accession	CVCL_XI40
Resource Identification Initiative	To cite this cell line use: LEIi011-B (RRID:CVCL_XI40)
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_XI39 ! LEIi011-A 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 Zhi-Qin Huang, Dan Zhang, Shang-Chih Chen, Jennifer A. Thompson, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Samuel McLenachan, Fred K. Chen; 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-B
Encyclopedic resources	Wikidata; Q95982062
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10