Cellosaurus cell line TPP1-iPS 2A (CVCL

Cellosaurus TPP1-iPS 2A (CVCL_VK69)

Cross-references
Cell line name	TPP1-iPS 2A
Accession	CVCL_VK69
Resource Identification Initiative	To cite this cell line use: TPP1-iPS 2A (RRID:CVCL_VK69)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>C (IVS5-1G>C); ClinVar=VCV000002644; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=24271013). Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg208Ter (c.622C>T); ClinVar=VCV000002643; Zygosity=Heterozygous (PubMed=24271013).
Disease	Neuronal ceroid lipofuscinosis type 2 (NCIt: C85864) Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_VK70 ! TPP1-iPS 2B
Sex of cell	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=24271013; DOI=10.1093/hmg/ddt596; PMCID=PMC3959814 Xenia Lojewski, John F. Staropoli, Sunita Biswas-Legrand, Alexandra M. Simas, Larissa Haliw, Martin K. Selig, Scott H. Coppel, Kendrick A. Goss, Anton Petcherski, Uma Chandrachud, Steven D. Sheridan ...Show all 23 authors... , Diane E. Lucente, Katherine B. Sims, James Francis Gusella, Dolan Sondhi, Ronald G. Crystal, Peter Reinhardt, Jared Sterneckert, Hans Robert Scholer, Stephen John Haggarty, Alexander Storch, Andreas Hermann, Susan L. Cotman; Show fewer authors Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Hum. Mol. Genet. 23:2005-2022(2014)
Encyclopedic resources	Wikidata; Q98133526
Entry history
Entry creation	07-Sep-2018
Last entry update	19-Dec-2024
Version number	11