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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
Carvalho L.M.L., Varella-Branco E., Sarafian R.D., Kobayashi G.S., Tofoli de Araujo F., Souza L.S., Moreira D.P., Hsia G.S.-P., Goloni-Bertollo E.M., Buck C.O.B., da Costa S.S., Fialho D.M.C., de Vasconcelos F.T.G.R., Brito L.A., de Souza Fraga Machado L.E., Ramos I.C., Pereira L.V., Koiffmann C.P., Passos-Bueno M.R., de Oliveira Mendes T.A., Krepischi A.C.V., Rosenberg C.
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