ID   PSADFSV40T317
AC   CVCL_DP35
DR   Wikidata; Q54948441
WW   https://www.progeriaresearch.org/available-cell-lines/
CC   Part of: Progeria Research Foundation cell lines.
CC   Sequence variation: Mutation; HGNC; 12877; ZMPSTE24; Simple; p.Pro248Leu (c.743C>T); ClinVar=VCV000004275; Zygosity=Heterozygous (PRF).
CC   Sequence variation: Mutation; HGNC; 12877; ZMPSTE24; Simple; p.Trp450Ter (c.1349G>A); ClinVar=VCV000030586; Zygosity=Heterozygous (PRF).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
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_1Z15 ! PSADFN317
SX   Male
AG   3Y9M
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 13
//