ID   CLN3-iPS 5A
AC   CVCL_VK65
DR   Wikidata; Q93454915
RX   PubMed=24271013;
CC   Sequence variation: Mutation; HGNC; HGNC:2074; CLN3; Simple; c.461-280_677+382del (1.02-kb del); ClinVar=VCV000003552; Zygosity=Heterozygous (PubMed=24271013).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 9
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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).
//