Cellosaurus cell line DHMCi009-A (CVCL

Cross-references
Cell line name	DHMCi009-A
Synonyms	TUBB2A-2
Accession	CVCL_C0JR
Resource Identification Initiative	To cite this cell line use: DHMCi009-A (RRID:CVCL_C0JR)
Comments	From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:12412; TUBB2A; Simple; p.Ala248Val (c.743C>T); ClinVar=VCV000127101; Zygosity=Heterozygous (PubMed=35930870).
Disease	Complex cortical dysplasia with other brain malformations 5 (NCIt: C189285)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	7Y
Category	Induced pluripotent stem cell
Publications	PubMed=35930870; DOI=10.1016/j.scr.2022.102879 Julian Schroter, Hanna Syring, Gudrun Gohring, Stefan Kolker, Thomas Opladen, Georg F. Hoffmann, Steffen Syrbe, Sabine Jung-Klawitter; Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy. Stem Cell Res. 64:102879-102879(2022)
Cell line databases/resources	hPSCreg; DHMCi009-A
Encyclopedic resources	Wikidata; Q112929453
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5