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Cellosaurus DHMi005-A-6 (CVCL_D0E1)

[Text version]
Cell line name DHMi005-A-6
Synonyms L_mut_FLAG Clone 14
Accession CVCL_D0E1
Resource Identification Initiative To cite this cell line use: DHMi005-A-6 (RRID:CVCL_D0E1)
Comments From: German Heart Center Munich; Munich; Germany.
Population: Caucasian.
Characteristics: Using CRISPR/Cas9 a FLAG tag was introduced at the C-terminus of the mutated allele of TBX5 (PubMed=37210946).
Derived from site: In situ; Adipose tissue; UBERON=UBERON_0001013.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:11604; TBX5; Simple_edited; p.Pro85Thr (c.253C>A) (c.920C>A); ClinVar=VCV000626359; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (from parent cell line).
Disease Holt-Oram syndrome (NCIt: C125592)
Holt-Oram syndrome (ORDO: Orphanet_392)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5SK (DHMi005-A-1)
Sex of cell Male
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=37210946; DOI=10.1016/j.scr.2023.103123
Lahm H., Stieglbauer S., Neb I., Doppler S.A., Schneider S., Dzilic E., Lange R., Krane M., Dressen M.
Generation of three CRISPR/Cas9 edited human induced pluripotent stem cell lines (DHMi005-A-5, DHMi005-A-6 and DHMi005-A-7) carrying a Holt-Oram Syndrome patient-specific TBX5 mutation with known cardiac phenotype and a FLAG-tag after exon 9 of the TBX5 gene.
Stem Cell Res. 69:103123-103123(2023)

Cross-references
Cell line databases/resources hPSCreg; DHMi005-A-6
Biological sample resources BioSamples; SAMEA111493346
Encyclopedic resources Wikidata; Q123031167
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3