ID   WAe009-A-55
AC   CVCL_A7HG
SY   TPP1 c.622C>T;630C>T (p.(Arg208*;Asn210Asn)), clone #25; EMe-TPR208X25; H9 TPP1 C>T#25; BROWNe010-A-55
DR   hPSCreg; WAe009-A-55
DR   Wikidata; Q107117430
RX   PubMed=33845243;
CC   From: Brown University; Providence; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple_edited; p.Arg208Ter (c.622C>T); ClinVar=VCV000002643; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=33845243).
CC   Sequence variation: Mutation; HGNC; HGNC:2073; TPP1; Simple_edited; p.Asn210Asn (c.630C>T); ClinVar=VCV003678568; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=33845243).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
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_9773 ! WA09
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 20-05-21; Last updated: 27-11-25; Version: 8
//
RX   PubMed=33845243; DOI=10.1016/j.scr.2021.102323; PMCID=PMC9173593;
RA   Ma, Li
RA   Prada, Adriana M.
RA   Schmidt, Michael
RA   Morrow, Eric M.
RT   "Generation of pathogenic TPP1 mutations in human stem cells as a
RT   model for neuronal ceroid lipofuscinosis type 2 disease.";
RL   Stem Cell Res. 53:102323-102323(2021).
//