ID   HT264B
AC   CVCL_C7L2
SY   GM28380; GM28380*B
DR   Coriell; GM28380
DR   Wikidata; Q117704509
RX   PubMed=29631617;
CC   From: NIH-NCATS-TRND Branch; Rockville; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg127Gln (c.380G>A); ClinVar=VCV000068746; Zygosity=Heterozygous (PubMed=29631617).
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>C (IVS5-1G>C); ClinVar=VCV000002644; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=29631617).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85864; Neuronal ceroid lipofuscinosis type 2
DI   ORDO; Orphanet_168486; Congenital neuronal ceroid lipofuscinosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_DA47 ! GM16486
SX   Male
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
//
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).
//