Cellosaurus cell line HT140A (CVCL

Cross-references
Cell line name	HT140A
Synonyms	GM27465; GM27465*A
Accession	CVCL_C7KX
Resource Identification Initiative	To cite this cell line use: HT140A (RRID:CVCL_C7KX)
Comments	From: NIH-NCATS-TRND Branch; Rockville; USA. Population: Latino or Hispanic. 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; p.Arg127Ter (c.379C>T); ClinVar=VCV000207569; Zygosity=Heterozygous (PubMed=29631617). Mutation; HGNC; HGNC:2073; TPP1; Simple; p.Arg208Ter (c.622C>T); ClinVar=VCV000002643; Zygosity=Heterozygous (PubMed=29631617).
Disease	Neuronal ceroid lipofuscinosis type 2 (NCIt: C85864) Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_DA46 (GM16485)
Sex of cell	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=29631617; DOI=10.1186/s13023-018-0798-2; PMCID=PMC5891977 Sima N., Li R., Huang W., Xu M., Beers J.K., Zou J.-Z., Titus S.A., Ottinger E.A., Marugan J.J., Xie X., Zheng W. 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)
Cell line collections (Providers)	Coriell; GM27465
Encyclopedic resources	Wikidata; Q117704504
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4