Cellosaurus cell line TUBA1A-iPS-B#1 (CVCL

Cross-references
Cell line name	TUBA1A-iPS-B#1
Accession	CVCL_VG52
Resource Identification Initiative	To cite this cell line use: TUBA1A-iPS-B#1 (RRID:CVCL_VG52)
Comments	Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:20766; TUBA1A; Simple; p.Arg264Cys (c.790C>T); ClinVar=VCV000007070; Zygosity=Heterozygous (PubMed=27431206).
Disease	Lissencephaly 3 (NCIt: C148461) Lissencephaly due to TUBA1A mutation (ORDO: Orphanet_171680)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_VG53 ! TUBA1A-iPS-B#2
Sex of cell	Male
Age at sampling	2Y
Category	Induced pluripotent stem cell
Publications	PubMed=27431206; DOI=10.1186/s13041-016-0246-y; PMCID=PMC4950778 Bamba Y., Shofuda T., Kato M., Pooh R.K., Tateishi Y., Takanashi J.-i., Utsunomiya H., Sumida M., Kanematsu D., Suemizu H., Higuchi Y., Akamatsu W., Gallagher D., Miller F.D., Yamasaki M., Kanemura Y., Okano H. In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations. Mol. Brain 9:70.1-70.14(2016)
Cell line databases/resources	SKIP; SKIP001343
Encyclopedic resources	Wikidata; Q54973341
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	9