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Cellosaurus (CVCL_XY55)

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Comments From: Laboratory of Human Genetics, Institute of Biosciences; Sao Paulo; Brazil.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:25230; AHDC1; Simple; p.Gln332Ter (c.994C>T); ClinVar=VCV000800800; Zygosity=Heterozygous; Note=De novo mutation (PubMed=37054903).
Disease Xia-Gibbs syndrome (NCIt: C192092)
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORDO: Orphanet_412069)
Species of origin Mus musculus (Mouse) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3