ID   PSADFN086
AC   CVCL_1Z05
SY   HGADFN086
DR   Wikidata; Q54948420
WW   https://www.progeriaresearch.org/available-cell-lines/
CC   Part of: Progeria Research Foundation cell lines.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; c.1968+1G>A; ClinVar=VCV000066879; Zygosity=Unspecified; Note=Splice donor mutation (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)
OI   CVCL_1Z87 ! PSALBV083
SX   Male
AG   7M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 13
//