ID   GM28877
AC   CVCL_D3A5
DR   Coriell; GM28877
DR   Wikidata; Q127380932
CC   Population: Caucasian and Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:22923; GMPPA; Simple; p.Thr292Pro (c.874A>C); ClinVar=VCV001684137; Zygosity=Heterozygous (Coriell=GM28877).
CC   Sequence variation: Mutation; HGNC; HGNC:22923; GMPPA; Simple; p.Arg318Trp (c.952C>T); Zygosity=Heterozygous (Coriell=GM28877).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C202544; Alacrima, achalasia, and impaired intellectual development syndrome
DI   ORDO; Orphanet_869; Triple A syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y3M
CA   Finite cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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