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Cellosaurus DHMCi009-A (CVCL_C0JR)

[Text version]
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; 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
Schroter J., Syring H., Gohring G., Kolker S., Opladen T., Hoffmann G.F., Syrbe S., Jung-Klawitter S.
Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy.
Stem Cell Res. 64:102879-102879(2022)

Cross-references
Cell line databases/resources hPSCreg; DHMCi009-A
Encyclopedic resources Wikidata; Q112929453
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4