ID   GM23650
AC   CVCL_BX04
DR   Coriell; GM23650
DR   Wikidata; Q54853194
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Arg401Cys (c.1201C>T); ClinVar=VCV000133029; Zygosity=Heterozygous (Coriell=GM23650).
CC   Sequence variation: Mutation; HGNC; HGNC:10483; RYR1; Simple; p.Pro2488Hisfs*39 (c.7463_7475delCAAAGATGTCAGC); ClinVar=VCV000197559; Zygosity=Heterozygous (Coriell=GM23650).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C83010; Central core disease
DI   ORDO; Orphanet_597; Central core disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1M
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
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