ID   HGADFN167 iPS1J
AC   CVCL_2A11
DR   Wikidata; Q54885950
WW   Provider; PRF; -; https://www.progeriaresearch.org/available-cell-lines/
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 (PRF).
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)
HI   CVCL_1Y92 ! HGADFN167
SX   Male
AG   8Y5M
CA   Induced pluripotent stem cell
DT   Created: 22-09-15; Last updated: 10-04-25; Version: 14
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