ID   GM06805
AC   CVCL_2Z54
DR   CLO; CLO_0036538
DR   Coriell; GM06805
DR   Wikidata; Q54842336
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 4115; GALC; Unexplicit; Ex11-17del (30-KB DEL,IVS10); ClinVar=VCV000003819; Zygosity=Homozygous (Coriell=GM06805).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C61254; Krabbe disease
DI   ORDO; Orphanet_487; Krabbe disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_2Z55 ! GM06806
SX   Female
AG   2Y
CA   Transformed cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 14
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//