ID   HGPS-iPSC#5
AC   CVCL_L659
DR   ISCR; 1983
DR   Wikidata; Q54887320
RX   PubMed=21346760;
CC   From: The Salk Institute for Biological Studies; San Diego; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; p.Gly608Gly (c.1824C>T); ClinVar=VCV000014500; Zygosity=Heterozygous; Note=Creates an exonic consensus splice donor sequence that leads to the activation of a cryptic splice site which in turn causes skipping of 150 bp of the LMNA mRNA leading to the deletion of 50 amino acids (from parent cell line).
CC   Derived from site: In situ; Chest, skin; UBERON=UBERON_0001868.
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)
HI   CVCL_F261 ! GM01972
SX   Female
AG   13Y10M
CA   Induced pluripotent stem cell
DT   Created: 06-05-13; Last updated: 29-06-23; Version: 16
//
RX   PubMed=21346760; DOI=10.1038/nature09879;
RA   Liu G.-H., Barkho B.Z., Ruiz S., Diep D., Qu J., Yang S.-L.,
RA   Panopoulos A.D., Suzuki K., Kurian L., Walsh C., Thompson J., Boue S.,
RA   Fung H.-L., Sancho-Martinez I., Zhang K., Yates J.R. III,
RA   Izpisua Belmonte J.C.;
RT   "Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford
RT   progeria syndrome.";
RL   Nature 472:221-225(2011).
//