ID   PSADFN257
AC   CVCL_1Z06
DR   Wikidata; Q54948421
WW   Provider; PRF; -; https://www.progeriaresearch.org/available-cell-lines/
CC   Part of: Progeria Research Foundation cell lines.
CC   Sequence variation: Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Met540Thr (c.1619T>C); ClinVar=VCV000066858; Zygosity=Homozygous (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   1Y10M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 10-04-25; Version: 13
//