Cellosaurus cell line TUBA1A-iPS-B#2 (CVCL

Cross-references
Cell line name	TUBA1A-iPS-B#2
Accession	CVCL_VG53
Resource Identification Initiative	To cite this cell line use: TUBA1A-iPS-B#2 (RRID:CVCL_VG53)
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_VG52 ! TUBA1A-iPS-B#1
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 Yohei Bamba, Tomoko Shofuda, Mitsuhiro Kato, Ritsuko Kimata Pooh, Yoko Tateishi, Jun-ichi Takanashi, Hidetsuna Utsunomiya, Miho Sumida, Daisuke Kanematsu, Hiroshi Suemizu, Yuichiro Higuchi ...Show all 17 authors... , Wado Akamatsu, Denis Gallagher, Freda D. Miller, Mami Yamasaki, Yonehiro Kanemura, Hideyuki Okano; Show fewer authors 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; SKIP001345
Encyclopedic resources	Wikidata; Q54973342
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	9