Cellosaurus cell line HT264A (CVCL

Cross-references
Cell line name	HT264A
Accession	CVCL_C7L1
Resource Identification Initiative	To cite this cell line use: HT264A (RRID:CVCL_C7L1)
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:2073; TPP1; Simple; p.Arg127Gln (c.380G>A); ClinVar=VCV000068746; Zygosity=Heterozygous (PubMed=29631617). Mutation; HGNC; HGNC:2073; TPP1; Simple; c.509-1G>C (IVS5-1G>C); ClinVar=VCV000002644; Zygosity=Heterozygous; Note=Splice acceptor mutation (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_DA47 (GM16486)
Sex of cell	Male
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)
Encyclopedic resources	Wikidata; Q117704508
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	4