ID   PSALBV427
AC   CVCL_2A06
DR   Wikidata; Q54948455
WW   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.Val607Val (c.1821G>A); ClinVar=VCV000014516; Zygosity=Heterozygous (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   3M
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 19-12-24; Version: 14
//