ID   PSALBV379
AC   CVCL_2A00
DR   Wikidata; Q54948453
WW   https://www.progeriaresearch.org/available-cell-lines/
CC   Part of: Progeria Research Foundation cell lines.
CC   Sequence variation: Mutation; HGNC; 6636; LMNA; Simple; c.1968+1G>A; ClinVar=VCV000066879; Zygosity=Heterozygous; Note=Splice donor mutation (PRF).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34951; Progeria
DI   ORDO; Orphanet_740; Hutchinson-Gilford progeria syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5Y3M
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 14
//