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Cellosaurus PSADFN386 (CVCL_YU43)

[Text version]
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; 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 https://www.progeriaresearch.org/available-cell-lines/
Publications

PubMed=27920058; DOI=10.1136/jmedgenet-2016-104295
Bar D.Z., Arlt M.F., Brazier J.F., Norris W.E., Campbell S.E., Chines P.S., Larrieu D., Jackson S.P., Collins F.S., Glover T.W., Gordon L.B.
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 update29-Jun-2023
Version number7