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Cellosaurus USPi003-A (CVCL_C6TF)

[Text version]
Cell line name USPi003-A
Synonyms iPS_LGH_AHDC1_P3
Accession CVCL_C6TF
Resource Identification Initiative To cite this cell line use: USPi003-A (RRID:CVCL_C6TF)
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; 25230; AHDC1; Simple; p.Lys494Serfs*22 (c.1481_1482delTT); ClinVar=VCV001320043; Zygosity=Heterozygous (hPSCreg=USPi003-A).
Disease Xia-Gibbs syndrome (NCIt: C192092)
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORDO: Orphanet_412069)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; USPi003-A
Biological sample resources BioSamples; SAMEA111506901
Encyclopedic resources Wikidata; Q117704949
Entry history
Entry creation21-Mar-2023
Last entry update29-Jun-2023
Version number2