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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; HGNC:25230; AHDC1; Simple; p.Lys494Serfs*22 (c.1481_1482delTT); ClinVar=VCV001320043; 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 Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=37054903; DOI=10.1016/j.gene.2023.147424
Laura Machado Lara Carvalho, Elisa Varella-Branco, Raquel Delgado Sarafian, Gerson Shigeru Kobayashi, Fabiano Tofoli de Araujo, Lucas Santos Souza, Danielle Paula Moreira, Gabriella Shih-Ping Hsia, Eny Maria Goloni-Bertollo, Cecilia Oliveira Barbosa Buck, Silvia Souza da Costa ...Show all 22 authors... , Davi Mendes Campos Fialho, Felipe Tadeu Galante Rocha de Vasconcelos, Luciano Abreu Brito, Luciana Elena de Souza Fraga Machado, Igor Cabreira Ramos, Lygia Veiga Pereira, Celia Priszkulnik Koiffmann, Maria Rita Passos-Bueno, Tiago Antonio de Oliveira Mendes, Ana Cristina Victorino Krepischi, Carla Rosenberg; Show fewer authors
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome.
Gene 871:147424.1-147424.10(2023)

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 update19-Dec-2024
Version number3