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Cellosaurus DHMi004-A-2 (CVCL_D0DY)

[Text version]
Cell line name DHMi004-A-2
Synonyms HOS_1460_FLAG Clone 4
Accession CVCL_D0DY
Resource Identification Initiative To cite this cell line use: DHMi004-A-2 (RRID:CVCL_D0DY)
Comments From: German Heart Center Munich; Munich; Germany.
Population: Caucasian.
Characteristics: Using CRISPR/Cas9 a FLAG tag was introduced at the C-terminus of one allele of TBX5 (hPSCreg=DHMi005-A-2).
Derived from site: In situ; Adipose tissue; UBERON=UBERON_0001013.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 11604; TBX5; Simple; p.Pro85Thr (c.253C>A) (c.920C>A); ClinVar=VCV000626359; Zygosity=Heterozygous; Note=De novo mutation (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_B5EP (DHMi004-A)
Sex of cell Male
Age at sampling 1Y3M
Category Induced pluripotent stem cell
Cell line databases/resources hPSCreg; DHMi004-A-2
Biological sample resources BioSamples; SAMEA112152464
Encyclopedic resources Wikidata; Q123031161
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2