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 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; SKIP001341
Encyclopedic resources	Wikidata; Q54973339
Entry history
Entry creation	14-May-2018
Last entry update	19-Dec-2024
Version number	10