ID   PSADFN392
AC   CVCL_1Z22
DR   Wikidata; Q54948437
RX   PubMed=27920058;
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+2T>C; ClinVar=VCV000162415; 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)
SX   Male
AG   7Y4M
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 13
//
RX   PubMed=27920058; DOI=10.1136/jmedgenet-2016-104295;
RA   Bar D.Z., Arlt M.F., Brazier J.F., Norris W.E., Campbell S.E.,
RA   Chines P.S., Larrieu D., Jackson S.P., Collins F.S., Glover T.W.,
RA   Gordon L.B.;
RT   "A novel somatic mutation achieves partial rescue in a child with
RT   Hutchinson-Gilford progeria syndrome.";
RL   J. Med. Genet. 54:212-216(2017).
//