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Cellosaurus PSADFN386 (CVCL_YU43)

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Cell line name PSADFN386
Accession CVCL_YU43
Resource Identification Initiative To cite this cell line use: PSADFN386 (RRID:CVCL_YU43)
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; HGNC:6636; LMNA; Simple; c.1968+2T>C; ClinVar=VCV000162415; Zygosity=Mosaic; Note=Splice donor mutation. In 100% of the skin fibroblast cells. The patient blood is mosaic for 4.7% c.1968+2T>C (causing mild HGPS) and 41.3% c.1968+2T>A (severe HGPS) (PubMed=27920058).
Disease Progeria (NCIt: C34951)
Hutchinson-Gilford progeria syndrome (ORDO: Orphanet_740)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 11M
Category Finite cell line
STR profile Source(s): PubMed=27920058

Markers:
AmelogeninX
CSF1PO10,11
D2S133824
D3S135815
D5S81811
D7S82011
D8S117911,14
D13S31712,13
D16S53912,13
D18S5115
D19S43314,15
D21S1128,33.2
FGA21
TH016,9
TPOX8,11
vWA14,17

Run an STR similarity search on this cell line
Web pages Provider; PRF; -; https://www.progeriaresearch.org/available-cell-lines/
Publications

PubMed=27920058; DOI=10.1136/jmedgenet-2016-104295; PMCID=PMC5384422
Daniel Z. Bar, Martin F. Arlt, Joan F. Brazier, Wendy E. Norris, Susan E. Campbell, Peter S. Chines, Delphine Larrieu, Stephen Philip Jackson, Francis Sellers Collins, Thomas W. Glover, Leslie Beth Gordon;
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
J. Med. Genet. 54:212-216(2017)

Cross-references
Encyclopedic resources Wikidata; Q98128672
Entry history
Entry creation12-Mar-2020
Last entry update10-Apr-2025
Version number9