ID   CLN3-iPS 3A
AC   CVCL_VK61
DR   Wikidata; Q93454905
RX   PubMed=24271013;
CC   Sequence variation: Mutation; HGNC; HGNC:2074; CLN3; Simple; c.461-280_677+382del (1.02-kb del); ClinVar=VCV000003552; Zygosity=Homozygous (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_VK62 ! CLN3-iPS 3B
SX   Male
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).
//