ID   HGADFN127 hTERT
AC   CVCL_C3PC
DR   Wikidata; Q116049317
RX   PubMed=36139359;
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Gly608Gly (c.1824C>T); ClinVar=VCV000014500; Zygosity=Heterozygous; Note=Creates an exonic consensus splice donor sequence that leads to the activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids (from parent cell line).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34951; Progeria
DI   ORDO; Orphanet_740; Hutchinson-Gilford progeria syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_1Y88 ! HGADFN127
SX   Female
AG   3Y9M
CA   Telomerase immortalized cell line
DT   Created: 15-12-22; Last updated: 19-12-24; Version: 5
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RX   PubMed=36139359; DOI=10.3390/cells11182784; PMCID=PMC9497314;
RA   Lin H.-H., Mensch J., Haschke A.M., Jager K., Kottgen B., Dernedde J.,
RA   Orso E., Walter M.;
RT   "Establishment and characterization of hTERT immortalized
RT   Hutchinson-Gilford progeria fibroblast cell lines.";
RL   Cells 11:2784.1-2784.13(2022).
//