ID   CBTCi008-A
AC   CVCL_WN05
SY   iM5
DR   hPSCreg; CBTCi008-A
DR   Wikidata; Q93444616
RX   PubMed=31272037;
CC   From: Centro de Biotecnologia e Terapia Celular, Hospital Sao Rafael; Salvador; Brazil.
CC   Sequence variation: Mutation; HGNC; 10588; SCN2A; Simple; p.Arg856Ter (c.2566C>T); ClinVar=VCV000436662; Zygosity=Heterozygous (PubMed=31272037).
CC   Caution: Incorrectly called CBTCi007-A in PubMed=31272037.
CC   Derived from site: In situ; Bone marrow; UBERON=UBERON_0002371.
CC   Cell type: Mesenchymal stem cell of bone marrow; CL=CL_0002540.
DI   NCIt; C88412; Autism spectrum disorder
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31272037; DOI=10.1016/j.scr.2019.101488;
RA   Sampaio G.L.A., Martins G.L.S., Paredes B.D., Nonaka C.K.V.,
RA   da Silva K.N., Rossi E.A., dos Santos R.R., Soares M.B.P.,
RA   de Freitas Souza B.S.;
RT   "Generation of an induced pluripotent stem cell line from a patient
RT   with autism spectrum disorder and SCN2A haploinsufficiency.";
RL   Stem Cell Res. 39:101488-101488(2019).
//