ID   hTERT-ATL3 Y192C
AC   CVCL_YU33
DR   Wikidata; Q94305935
RX   PubMed=30666337;
CC   Sequence variation: Mutation; HGNC; HGNC:24526; ATL3; Simple; p.Tyr192Cys (c.575A>G); ClinVar=VCV000097070; Zygosity=Heterozygous (PubMed=30666337).
CC   Genetic integration: Method=Transfection; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Miscellaneous: Age/sex of donor from personal communication of Kaether, Christoph.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C170433; Neuropathy, hereditary sensory and autonomic, type I
DI   ORDO; Orphanet_36386; Hereditary sensory and autonomic neuropathy type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   66Y
CA   Telomerase immortalized cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 10
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RX   PubMed=30666337; DOI=10.1007/s00018-019-03010-x; PMCID=PMC6420906;
RA   Behrendt L., Kurth I., Kaether C.;
RT   "A disease causing ATLASTIN 3 mutation affects multiple endoplasmic
RT   reticulum-related pathways.";
RL   Cell. Mol. Life Sci. 76:1433-1445(2019).
//