ID   HGADFSV40T367
AC   CVCL_DP43
SY   HGADFNSV40T367
DR   Wikidata; Q54885958
CC   Part of: Progeria Research Foundation cell lines.
CC   Sequence variation: Mutation; 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 (PRF).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Miscellaneous: Cell line no longer available.
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_1Y99 ! HGADFN367
SX   Female
AG   3Y0M
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 13
//