ID   PSADFN386
AC   CVCL_YU43
DR   Wikidata; Q98128672
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=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: 29-06-23; Version: 7
//
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).
//