ID   GM26599
AC   CVCL_RT67
DR   Coriell; GM26599
DR   Wikidata; Q54854117
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Ser116Ter (c.347C>G); ClinVar=VCV000221579; Zygosity=Heterozygous (Coriell=GM26599).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_EH32 ! GM25597
SX   Female
AG   48Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
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