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Cellosaurus DHMi004-A-1 (CVCL_D0DX)

[Text version]
Cell line name DHMi004-A-1
Synonyms HOS_1460corr 127 Clone 31
Accession CVCL_D0DX
Resource Identification Initiative To cite this cell line use: DHMi004-A-1 (RRID:CVCL_D0DX)
Comments From: German Heart Center Munich; Munich; Germany.
Population: Caucasian.
Derived from site: In situ; Adipose tissue; UBERON=UBERON_0001013.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:11604; TBX5; Simple_corrected; p.Pro85Thr (c.253C>A) (c.920C>A); ClinVar=VCV000626359; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37253295).
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)
Children:
CVCL_D0DZ (DHMi004-A-3)CVCL_D0E3 (DHMi004-A-4)CVCL_D0E4 (DHMi004-A-5)
CVCL_D0E5 (DHMi004-A-6)
Sex of cell Male
Age at sampling 1Y3M
Category Induced pluripotent stem cell
Publications

PubMed=37253295; DOI=10.1016/j.scr.2023.103126
Harald Lahm, Elda Dzilic, Irina Neb, Stefanie A. Doppler, Stephanie Schneider, Rudiger Lange, Markus Krane, Martina Dressen;
Correction of a deleterious TBX5 mutation in an induced pluripotent stem cell line (DHMi004-A-1) using a completely plasmid-free CRISPR/Cas 9 approach.
Stem Cell Res. 70:103126-103126(2023)

Cross-references
Cell line databases/resources hPSCreg; DHMi004-A-1
Biological sample resources BioSamples; SAMEA112137054
Encyclopedic resources Wikidata; Q123031160
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3