ID   GM20389
AC   CVCL_DA99
DR   CLO; CLO_0029547
DR   Coriell; GM20389
DR   Wikidata; Q54850997
RX   PubMed=29631617;
CC   Sequence variation: Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Met1Ile (c.3G>A); ClinVar=VCV000056193; Zygosity=Heterozygous (Coriell=GM20389).
CC   Sequence variation: Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Tyr247His (c.739T>C); ClinVar=VCV000056214; Zygosity=Heterozygous (Coriell=GM20389).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85861; Neuronal ceroid lipofuscinosis type 1
DI   ORDO; Orphanet_168486; Congenital neuronal ceroid lipofuscinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   19Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 14
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RX   PubMed=29631617; DOI=10.1186/s13023-018-0798-2; PMCID=PMC5891977;
RA   Sima N., Li R., Huang W., Xu M., Beers J.K., Zou J.-Z., Titus S.A.,
RA   Ottinger E.A., Marugan J.J., Xie X., Zheng W.;
RT   "Neural stem cells for disease modeling and evaluation of therapeutics
RT   for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal
RT   ceroid lipofuscinoses.";
RL   Orphanet J. Rare Dis. 13:54.1-54.14(2018).
//