ID   GM26596
AC   CVCL_RT82
DR   Coriell; GM26596
DR   Wikidata; Q54854114
CC   Sequence variation: Mutation; HGNC; HGNC:3157; EDA; Simple; p.Arg69Leu (c.206G>T); ClinVar=VCV000011032; Zygosity=Hemizygous (Coriell=GM26596).
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Trp535Ter (c.1604G>A); ClinVar=VCV000221577; Zygosity=Heterozygous (Coriell=GM26596).
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Ser636_Leu637insTer (c.1910delT) (p.Leu637Ter); ClinVar=VCV000221582; Zygosity=Heterozygous (Coriell=GM26596).
CC   Sequence variation: Mutation; HGNC; HGNC:9967; RET; Simple; p.Arg813Gln (c.2438G>A); ClinVar=VCV000643114; Zygosity=Heterozygous (Coriell=GM26596).
CC   Sequence variation: Mutation; HGNC; HGNC:10891; SIX5; Simple; p.Thr552Met (c.1655C>T); ClinVar=VCV000008601; Zygosity=Heterozygous (Coriell=GM26596).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126746; Congenital disorder of deglycosylation
DI   ORDO; Orphanet_404454; Alacrimia-choreoathetosis-liver dysfunction syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RT81 ! GM26595
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 13
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