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Cellosaurus CBTCi008-A (CVCL_WN05)

[Text version]
Cell line name CBTCi008-A
Synonyms iM5
Accession CVCL_WN05
Resource Identification Initiative To cite this cell line use: CBTCi008-A (RRID:CVCL_WN05)
Comments From: Centro de Biotecnologia e Terapia Celular, Hospital Sao Rafael; Salvador; Brazil.
Caution: Incorrectly called CBTCi007-A in PubMed=31272037.
Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
Cell type: Mesenchymal stem cell of bone marrow; CL=CL_0002540.
Sequence variations
  • Mutation; HGNC; 10588; SCN2A; Simple; p.Arg856Ter (c.2566C>T); ClinVar=VCV000436662; Zygosity=Heterozygous (PubMed=31272037).
Disease Autism spectrum disorder (NCIt: C88412)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=31272037; DOI=10.1016/j.scr.2019.101488
Sampaio G.L.A., Martins G.L.S., Paredes B.D., Nonaka C.K.V., da Silva K.N., Rossi E.A., dos Santos R.R., Soares M.B.P., de Freitas Souza B.S.
Generation of an induced pluripotent stem cell line from a patient with autism spectrum disorder and SCN2A haploinsufficiency.
Stem Cell Res. 39:101488-101488(2019)

Cross-references
Cell line databases/resources hPSCreg; CBTCi008-A
Encyclopedic resources Wikidata; Q93444616
Entry history
Entry creation24-May-2019
Last entry update29-Jun-2023
Version number8