ID   GM27381
AC   CVCL_XC50
SY   GM27381*B
DR   Coriell; GM27381
DR   Wikidata; Q93933196
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1397; CACNA1S; Simple; p.Thr1354Ser (c.4060A>T); ClinVar=VCV000161208; Zygosity=Heterozygous (Coriell=GM27381).
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gln208Ter (c.622C>T); ClinVar=VCV000221578; Zygosity=Heterozygous (Coriell=GM27381).
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gly310Gly (c.930C>T); ClinVar=VCV000221583; Zygosity=Heterozygous (Coriell=GM27381).
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)
HI   CVCL_BX28 ! GM25344
SX   Male
AG   10Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 12
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