Cellosaurus cell line USPi002-A (CVCL

Cellosaurus USPi002-A (CVCL_C6TE)

Cross-references
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; HGNC:25230; AHDC1; Simple; p.Lys552Argfs*33 (c.1653del); 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)
Cell line databases/resources	hPSCreg; USPi002-A
Biological sample resources	BioSamples; SAMEA111502785
Encyclopedic resources	Wikidata; Q117704948
Entry history
Entry creation	21-Mar-2023
Last entry update	19-Dec-2024
Version number	3