ID   PG1-iPS-2
AC   CVCL_L667
SY   PG1-IPS-2
DR   Wikidata; Q54947314
RX   PubMed=21185252;
CC   From: A*STAR Institute of Medical Biology; Singapore; Singapore.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 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; Thigh, skin; UBERON=UBERON_0004262.
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_H766 ! AG11498
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 06-05-13; Last updated: 19-12-24; Version: 18
//
RX   PubMed=21185252; DOI=10.1016/j.stem.2010.12.002;
RA   Zhang J.-Q., Lian Q.-Z., Zhu G.-L., Zhou F., Sui L., Tan C.,
RA   Mutalif R.A., Navasankari R., Zhang Y.-L., Tse H.-F., Stewart C.L.,
RA   Colman A.;
RT   "A human iPSC model of Hutchinson Gilford progeria reveals vascular
RT   smooth muscle and mesenchymal stem cell defects.";
RL   Cell Stem Cell 8:31-45(2011).
//