ID   PSADFN318
AC   CVCL_1Z16
DR   Wikidata; Q54948425
WW   Provider; PRF; -; https://www.progeriaresearch.org/available-cell-lines/
CC   Part of: Progeria Research Foundation cell lines.
CC   Sequence variation: Mutation; HGNC; HGNC:12877; ZMPSTE24; Simple; p.Pro248Leu (c.743C>T); ClinVar=VCV000004275; Zygosity=Heterozygous (PRF).
CC   Sequence variation: Mutation; HGNC; HGNC:12877; ZMPSTE24; Simple; p.Trp450Ter (c.1349G>A); ClinVar=VCV000030586; Zygosity=Heterozygous (PRF).
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)
SX   Male
AG   5M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 10-04-25; Version: 14
CH   CVCL_DP36 ! PSADFSV40T318
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