ID   GM05147
AC   CVCL_1K23
DR   CLO; CLO_0025240
DR   Coriell; GM05147
DR   Wikidata; Q54838886
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; HGNC:9118; PMP22; Duplication; Zygosity=Unspecified (from familial inference of GM05148; GM05149).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C75468; Charcot-Marie-Tooth disease type 1A
DI   ORDO; Orphanet_101081; Charcot-Marie-Tooth disease type 1A
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1K22 ! GM05146
SX   Female
AG   40Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 13
//