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

Cross-references
Cell line name	TUBA1A-iPS-A#1
Accession	CVCL_VG50
Resource Identification Initiative	To cite this cell line use: TUBA1A-iPS-A#1 (RRID:CVCL_VG50)
Comments	Derived from site: In situ; Umbilical cord; UBERON=UBERON_0002331. Cell type: Stromal cell; CL=CL_0000499.
Sequence variations	Mutation; HGNC; HGNC:20766; TUBA1A; Simple; p.Asn329Ser (c.986A>G); ClinVar=VCV000160167; 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_VG51 ! TUBA1A-iPS-A#3
Sex of cell	Male
Age at sampling	<1D
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; SKIP001341
Encyclopedic resources	Wikidata; Q54973339
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	10