ID   TUBA1A-iPS-A#3
AC   CVCL_VG51
DR   SKIP; SKIP001344
DR   Wikidata; Q54973340
RX   PubMed=27431206;
CC   Sequence variation: Mutation; HGNC; HGNC:20766; TUBA1A; Simple; p.Asn329Ser (c.986A>G); ClinVar=VCV000160167; Zygosity=Heterozygous (PubMed=27431206).
CC   Derived from site: In situ; Umbilical cord; UBERON=UBERON_0002331.
CC   Cell type: Stromal cell; CL=CL_0000499.
DI   NCIt; C148461; Lissencephaly 3
DI   ORDO; Orphanet_171680; Lissencephaly due to TUBA1A mutation
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VG50 ! TUBA1A-iPS-A#1
SX   Male
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 10
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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).
//