ID   GM08935
AC   CVCL_FV44
DR   CLO; CLO_0011050
DR   BioSample; SAMN00798290
DR   Coriell; GM08935
DR   Wikidata; Q54843416
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 21576; NHLRC1; Simple; p.Pro129His (c.386C>A); ClinVar=VCV000206187; Zygosity=Homozygous (Coriell=GM08935).
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   19Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 30-01-24; Version: 10
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