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Cellosaurus USPi002-A (CVCL_C6TE)

[Text version]
Cell line name USPi002-A
Synonyms iPS_LGH_AHDC1_P2
Accession CVCL_C6TE
Resource Identification Initiative To cite this cell line use: USPi002-A (RRID:CVCL_C6TE)
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.Lys552Argfs*33 (c.1653del); Zygosity=Heterozygous (hPSCreg=USPi002-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; USPi002-A
Biological sample resources BioSamples; SAMEA111502785
Encyclopedic resources Wikidata; Q117704948
Entry history
Entry creation21-Mar-2023
Last entry update29-Jun-2023
Version number2