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Cellosaurus HGADFN003 (CVCL_1Y86)

[Text version]
Cell line name HGADFN003
Synonyms HGADFN 003; HGP 003; P01
Accession CVCL_1Y86
Resource Identification Initiative To cite this cell line use: HGADFN003 (RRID:CVCL_1Y86)
Comments Part of: Progeria Research Foundation cell lines.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • 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 (PRF; PubMed=12714972).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_C3PB (HGADFN003 hTERT)CVCL_2A08 (HGADFN003 iPS1B)CVCL_2A09 (HGADFN003 iPS1C)
CVCL_2A10 (HGADFN003 iPS1D)
Originate from same individual CVCL_1Z47 ! HGALBV073
Sex of cell Male
Age at sampling 2Y0M
Category Finite cell line
Web pages https://www.progeriaresearch.org/available-cell-lines/
Publications

PubMed=12714972; DOI=10.1038/nature01629; PMCID=PMC10540076
Eriksson M., Brown W.T., Gordon L.B., Glynn M.W., Singer J., Scott L., Erdos M.R., Robbins C.M., Moses T.Y., Berglund P., Dutra A., Pak E., Durkin S., Csoka A.B., Boehnke M., Glover T.W., Collins F.S.
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Nature 423:293-298(2003)

PubMed=16126733; DOI=10.1093/hmg/ddi326
Glynn M.W., Glover T.W.
Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
Hum. Mol. Genet. 14:2959-2969(2005)

PubMed=19958786; DOI=10.1016/j.mad.2009.11.006; PMCID=PMC2837844
Viteri G., Chung Y.W., Stadtman E.R.
Effect of progerin on the accumulation of oxidized proteins in fibroblasts from Hutchinson Gilford progeria patients.
Mech. Ageing Dev. 131:2-8(2010)

PubMed=23213444; DOI=10.1242/bio.20121149; PMCID=PMC3509444
Wenzel V., Roedl D., Gabriel D., Gordon L.B., Herlyn M., Schneider R., Ring J., Djabali K.
Naive adult stem cells from patients with Hutchinson-Gilford progeria syndrome express low levels of progerin in vivo.
Biol. Open 1:516-526(2012)

PubMed=36139359; DOI=10.3390/cells11182784; PMCID=PMC9497314
Lin H.-H., Mensch J., Haschke A.M., Jager K., Kottgen B., Dernedde J., Orso E., Walter M.
Establishment and characterization of hTERT immortalized Hutchinson-Gilford progeria fibroblast cell lines.
Cells 11:2784.1-2784.13(2022)

Cross-references
Encyclopedic resources Wikidata; Q54885929
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number15