ID   HGADFN014
AC   CVCL_2A28
DR   Wikidata; Q54885942
RX   PubMed=12714972;
CC   Part of: Progeria Research Foundation cell lines.
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 (PubMed=12714972).
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
SX   Male
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 14
//
RX   PubMed=12714972; DOI=10.1038/nature01629; PMCID=PMC10540076;
RA   Eriksson, Maria
RA   Brown, W. Ted
RA   Gordon, Leslie Beth
RA   Glynn, Michael W.
RA   Singer, Joel
RA   Scott, Laura
RA   Erdos, Michael R.
RA   Robbins, Christiane M.
RA   Moses, Tracy Y.
RA   Berglund, Peter
RA   Dutra, Amalia
RA   Pak, Evgenia
RA   Durkin, Sandra
RA   Csoka, Antonei Benjamin
RA   Boehnke, Michael
RA   Glover, Thomas W.
RA   Collins, Francis Sellers
RT   "Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford
RT   progeria syndrome.";
RL   Nature 423:293-298(2003).
//