ID   PSALBV295
AC   CVCL_1Z96
DR   Wikidata; Q54948448
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.Glu111Lys (c.331G>A); 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)
OI   CVCL_1Z27 ! PSADFN425
SX   Male
AG   17Y3M
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 10-04-25; Version: 14
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