Cellosaurus cell line PG1-iPS-1 (CVCL

Cellosaurus PG1-iPS-1 (CVCL_L666)

Cross-references
Cell line name	PG1-iPS-1
Synonyms	PG1-IPS-1; PG1-iPSC_HGPS
Accession	CVCL_L666
Resource Identification Initiative	To cite this cell line use: PG1-iPS-1 (RRID:CVCL_L666)
Comments	From: A*STAR Institute of Medical Biology; Singapore; Singapore. Population: African American. Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	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).
Disease	Progeria (NCIt: C34951) Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_H766 (AG11498)
Sex of cell	Male
Age at sampling	14Y
Category	Induced pluripotent stem cell
Publications	PubMed=21185252; DOI=10.1016/j.stem.2010.12.002 Zhang J.-Q., Lian Q.-Z., Zhu G.-L., Zhou F., Sui L., Tan C., Mutalif R.A., Navasankari R., Zhang Y.-L., Tse H.-F., Stewart C.L., Colman A. A human iPSC model of Hutchinson Gilford progeria reveals vascular smooth muscle and mesenchymal stem cell defects. Cell Stem Cell 8:31-45(2011)
Cell line databases/resources	SKIP; SKIP003112
Encyclopedic resources	Wikidata; Q54947313
Entry history
Entry creation	06-May-2013
Last entry update	19-Dec-2024
Version number	18