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Cellosaurus DHMCi008-A (CVCL_C0JQ)

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Cell line name DHMCi008-A
Synonyms TUBA1A-1
Accession CVCL_C0JQ
Resource Identification Initiative To cite this cell line use: DHMCi008-A (RRID:CVCL_C0JQ)
Comments From: Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine Heidelberg; Heidelberg; Germany.
Population: Turkish.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:20766; TUBA1A; Simple; p.Ala174Val (c.521C>T); ClinVar=VCV000160159; Zygosity=Heterozygous; Note=De novo mutation (PubMed=35636247).
Disease Lissencephaly 3 (NCIt: C148461)
Lissencephaly due to TUBA1A mutation (ORDO: Orphanet_171680)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y
Category Induced pluripotent stem cell
Publications

PubMed=35636247; DOI=10.1016/j.scr.2022.102818
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 (DHMCi008-A) from an individual with TUBA1A tubulinopathy.
Stem Cell Res. 62:102818-102818(2022)

Cross-references
Cell line databases/resources hPSCreg; DHMCi008-A
Encyclopedic resources Wikidata; Q112929452
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5