ID   DHMCi009-A
AC   CVCL_C0JR
SY   TUBB2A-2
DR   hPSCreg; DHMCi009-A
DR   Wikidata; Q112929453
RX   PubMed=35930870;
CC   From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12412; TUBB2A; Simple; p.Ala248Val (c.743C>T); ClinVar=VCV000127101; Zygosity=Heterozygous (PubMed=35930870).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C189285; Complex cortical dysplasia with other brain malformations 5
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=35930870; DOI=10.1016/j.scr.2022.102879;
RA   Schroter J., Syring H., Gohring G., Kolker S., Opladen T.,
RA   Hoffmann G.F., Syrbe S., Jung-Klawitter S.;
RT   "Generation of an induced pluripotent stem cell line (DHMCi009-A) from
RT   an individual with TUBB2A tubulinopathy.";
RL   Stem Cell Res. 64:102879-102879(2022).
//