Cellosaurus cell line hTERT-ATL3 Y192C (CVCL

Cross-references
Cell line name	hTERT-ATL3 Y192C
Accession	CVCL_YU33
Resource Identification Initiative	To cite this cell line use: hTERT-ATL3 Y192C (RRID:CVCL_YU33)
Comments	Genetic integration: Method=Transfection; Gene=HGNC; HGNC:11730; TERT. Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo. Miscellaneous: Age/sex of donor from personal communication of Kaether, Christoph. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:24526; ATL3; Simple; p.Tyr192Cys (c.575A>G); ClinVar=VCV000097070; Zygosity=Heterozygous (PubMed=30666337).
Disease	Neuropathy, hereditary sensory and autonomic, type I (NCIt: C170433) Hereditary sensory and autonomic neuropathy type 1 (ORDO: Orphanet_36386)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	66Y
Category	Telomerase immortalized cell line
Publications	PubMed=30666337; DOI=10.1007/s00018-019-03010-x; PMCID=PMC6420906 Behrendt L., Kurth I., Kaether C. A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways. Cell. Mol. Life Sci. 76:1433-1445(2019)
Encyclopedic resources	Wikidata; Q94305935
Entry history
Entry creation	12-Mar-2020
Last entry update	19-Dec-2024
Version number	10