ID   GM26644
AC   CVCL_RU06
SY   GM26644*B
DR   Coriell; GM26644
DR   Wikidata; Q54854138
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4115; GALC; Unexplicit; Ex11-17del (30-KB DEL,IVS10); ClinVar=VCV000003819; Zygosity=Homozygous (Coriell=GM26644).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C61254; Krabbe disease
DI   ORDO; Orphanet_487; Krabbe disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2Z55 ! GM06806
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 12
//