ID   AG27221
AC   CVCL_UX47
SY   AG27221*B
DR   Coriell; AG27221
DR   Wikidata; Q93323493
CC   Population: Caucasian.
CC   Sequence variation: 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 (Coriell=AG27221).
CC   Derived from site: In situ; Chest, skin; UBERON=UBERON_0001868.
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_F261 ! GM01972
SX   Female
AG   13Y10M
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 30-01-24; Version: 11
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