ID   CLN3-iPS 2A
AC   CVCL_VK59
DR   Wikidata; Q93454901
RX   PubMed=24271013;
CC   Sequence variation: Mutation; HGNC; HGNC:2074; CLN3; Simple; c.1056+3A>C; ClinVar=VCV000056247; Zygosity=Heterozygous (PubMed=24271013).
CC   Sequence variation: Mutation; HGNC; HGNC:2074; CLN3; Simple; p.Asp416Gly (c.1247A>G); ClinVar=VCV000056252; Zygosity=Heterozygous (PubMed=24271013).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C61258; Neuronal ceroid lipofuscinosis type 3
DI   ORDO; Orphanet_168486; Congenital neuronal ceroid lipofuscinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VK60 ! CLN3-iPS 2B
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 11
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RX   PubMed=24271013; DOI=10.1093/hmg/ddt596; PMCID=PMC3959814;
RA   Lojewski X., Staropoli J.F., Biswas-Legrand S., Simas A.M., Haliw L.,
RA   Selig M.K., Coppel S.H., Goss K.A., Petcherski A., Chandrachud U.,
RA   Sheridan S.D., Lucente D., Sims K.B., Gusella J.F., Sondhi D.,
RA   Crystal R.G., Reinhardt P., Sterneckert J., Scholer H.R., Haggarty S.J.,
RA   Storch A., Hermann A., Cotman S.L.;
RT   "Human iPSC models of neuronal ceroid lipofuscinosis capture distinct
RT   effects of TPP1 and CLN3 mutations on the endocytic pathway.";
RL   Hum. Mol. Genet. 23:2005-2022(2014).
//