ID   GM08936
AC   CVCL_FV45
DR   CLO; CLO_0011049
DR   Coriell; GM08936
DR   Wikidata; Q54843417
CC   Sequence variation: Mutation; HGNC; HGNC:21576; NHLRC1; Simple; p.Pro129His (c.386C>A); ClinVar=VCV000206187; Zygosity=Homozygous (Coriell=GM08936).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84804; Lafora disease
DI   ORDO; Orphanet_501; Lafora disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   16Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 11
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