ID   GM25344
AC   CVCL_BX28
DR   Coriell; GM25344
DR   Wikidata; Q54853882
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1397; CACNA1S; Simple; p.Thr1354Ser (c.4060A>T); ClinVar=VCV000161208; Zygosity=Heterozygous (Coriell=GM25344).
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Gln208Ter (c.622C>T); ClinVar=VCV000221578; Zygosity=Heterozygous (Coriell=GM25344).
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Gly310Gly (c.930C>T); ClinVar=VCV000221583; Zygosity=Heterozygous (Coriell=GM25344).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_BX22 ! GM25330
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 13
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