ID   PSADFN386
AC   CVCL_YU43
DR   Wikidata; Q98128672
RX   PubMed=27920058;
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; c.1968+2T>C; ClinVar=VCV000162415; Zygosity=Mosaic; Note=Splice donor mutation. In 100% of the skin fibroblast cells. The patient blood is mosaic for 4.7% c.1968+2T>C (causing mild HGPS) and 41.3% c.1968+2T>A (severe HGPS) (PubMed=27920058).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=27920058
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 12,13
ST   D16S539: 12,13
ST   D18S51: 15
ST   D19S433: 14,15
ST   D21S11: 28,33.2
ST   D2S1338: 24
ST   D3S1358: 15
ST   D5S818: 11
ST   D7S820: 11
ST   D8S1179: 11,14
ST   FGA: 21
ST   TH01: 6,9
ST   TPOX: 8,11
ST   vWA: 14,17
DI   NCIt; C34951; Progeria
DI   ORDO; Orphanet_740; Hutchinson-Gilford progeria syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   11M
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 10-04-25; Version: 9
//
RX   PubMed=27920058; DOI=10.1136/jmedgenet-2016-104295; PMCID=PMC5384422;
RA   Bar, Daniel Z.
RA   Arlt, Martin F.
RA   Brazier, Joan F.
RA   Norris, Wendy E.
RA   Campbell, Susan E.
RA   Chines, Peter S.
RA   Larrieu, Delphine
RA   Jackson, Stephen Philip
RA   Collins, Francis Sellers
RA   Glover, Thomas W.
RA   Gordon, Leslie Beth
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).
//