ID   TUBA1A-iPS-B#1
AC   CVCL_VG52
DR   SKIP; SKIP001343
DR   Wikidata; Q54973341
RX   PubMed=27431206;
CC   Sequence variation: Mutation; HGNC; HGNC:20766; TUBA1A; Simple; p.Arg264Cys (c.790C>T); ClinVar=VCV000007070; Zygosity=Heterozygous (PubMed=27431206).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C148461; Lissencephaly 3
DI   ORDO; Orphanet_171680; Lissencephaly due to TUBA1A mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VG53 ! TUBA1A-iPS-B#2
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 9
//
RX   PubMed=27431206; DOI=10.1186/s13041-016-0246-y; PMCID=PMC4950778;
RA   Bamba Y., Shofuda T., Kato M., Pooh R.K., Tateishi Y., Takanashi J.-i.,
RA   Utsunomiya H., Sumida M., Kanematsu D., Suemizu H., Higuchi Y.,
RA   Akamatsu W., Gallagher D., Miller F.D., Yamasaki M., Kanemura Y.,
RA   Okano H.;
RT   "In vitro characterization of neurite extension using induced
RT   pluripotent stem cells derived from lissencephaly patients with TUBA1A
RT   missense mutations.";
RL   Mol. Brain 9:70.1-70.14(2016).
//