Cellosaurus cell line CLN3-iPS 2A (CVCL

Cellosaurus CLN3-iPS 2A (CVCL_VK59)

Cross-references
Cell line name	CLN3-iPS 2A
Accession	CVCL_VK59
Resource Identification Initiative	To cite this cell line use: CLN3-iPS 2A (RRID:CVCL_VK59)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2074; CLN3; Simple; c.1056+3A>C; ClinVar=VCV000056247; Zygosity=Heterozygous (PubMed=24271013). Mutation; HGNC; HGNC:2074; CLN3; Simple; p.Asp416Gly (c.1247A>G); ClinVar=VCV000056252; Zygosity=Heterozygous (PubMed=24271013).
Disease	Neuronal ceroid lipofuscinosis type 3 (NCIt: C61258) Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_VK60 ! CLN3-iPS 2B
Sex of cell	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=24271013; DOI=10.1093/hmg/ddt596; PMCID=PMC3959814 Lojewski X., Staropoli J.F., Biswas-Legrand S., Simas A.M., Haliw L., Selig M.K., Coppel S.H., Goss K.A., Petcherski A., Chandrachud U., Sheridan S.D., Lucente D., Sims K.B., Gusella J.F., Sondhi D., Crystal R.G., Reinhardt P., Sterneckert J., Scholer H.R., Haggarty S.J., Storch A., Hermann A., Cotman S.L. Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Hum. Mol. Genet. 23:2005-2022(2014)
Encyclopedic resources	Wikidata; Q93454901
Entry history
Entry creation	07-Sep-2018
Last entry update	19-Dec-2024
Version number	11