ID   AG28340
AC   CVCL_B5PN
SY   AG28340*B
DR   Coriell; AG28340
DR   Wikidata; Q111732897
CC   Population: African American.
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 (Coriell=AG28340).
CC   Derived from site: In situ; Thigh, skin; UBERON=UBERON_0004262.
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_H766 ! AG11498
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 6
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