Cellosaurus logo
expasy logo

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; 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
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; USPi002-A
Biological sample resources BioSamples; SAMEA111502785
Encyclopedic resources Wikidata; Q117704948
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number3