Cellosaurus cell line CBTCi008-A (CVCL

Cross-references
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; 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 Gabriela Louise Almeida Sampaio, Gabriele Louise Soares Martins, Bruno Diaz Paredes, Carolina Kymie Vasques Nonaka, Katia Nunes da Silva, Edmund A. Rossi, Ricardo Ribeiro dos Santos, Milena Botelho Pereira Soares, Bruno Solano de Freitas Souza; 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)
Cell line databases/resources	hPSCreg; CBTCi008-A
Encyclopedic resources	Wikidata; Q93444616
Entry history
Entry creation	24-May-2019
Last entry update	19-Dec-2024
Version number	9