Cellosaurus cell line HT146F (CVCL

Cross-references
Cell line name	HT146F
Accession	CVCL_C7L0
Resource Identification Initiative	To cite this cell line use: HT146F (RRID:CVCL_C7L0)
Comments	From: NIH-NCATS-TRND Branch; Rockville; USA. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Met1Ile (c.3G>A); ClinVar=VCV000056193; Zygosity=Heterozygous (PubMed=29631617). Mutation; HGNC; HGNC:9325; PPT1; Simple; p.Tyr247His (c.739T>C); ClinVar=VCV000056214; Zygosity=Heterozygous (PubMed=29631617).
Disease	Neuronal ceroid lipofuscinosis type 1 (NCIt: C85861) Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_DA99 (GM20389)
Sex of cell	Male
Age at sampling	19Y
Category	Induced pluripotent stem cell
Publications	PubMed=29631617; DOI=10.1186/s13023-018-0798-2; PMCID=PMC5891977 Ni Sima, Rong Li, Wei Huang, Miao Xu, Jeanette K. Beers, Ji-Zhong Zou, Steven A. Titus, Elizabeth A. Ottinger, Juan Jose Marugan, Xing Xie, Wei Zheng; Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses. Orphanet J. Rare Dis. 13:54.1-54.14(2018)
Encyclopedic resources	Wikidata; Q117704507
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4