ID   GM26577
AC   CVCL_A2WJ
DR   Coriell; GM26577
DR   Wikidata; Q105507080
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:9118; PMP22; Unexplicit; Ex1-5del; Zygosity=Heterozygous (Coriell=GM26577).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176898; Neuropathy, recurrent, with pressure palsies
DI   ORDO; Orphanet_640; Hereditary neuropathy with liability to pressure palsies
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   33Y
CA   Transformed cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//