Cellosaurus logo
expasy logo

Cellosaurus DHMi005-A-1 (CVCL_B5SK)

[Text version]
Cell line name DHMi005-A-1
Synonyms L_mut
Accession CVCL_B5SK
Resource Identification Initiative To cite this cell line use: DHMi005-A-1 (RRID:CVCL_B5SK)
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_edited; p.Pro85Thr (c.253C>A) (c.920C>A); ClinVar=VCV000626359; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=35121196).
Disease Holt-Oram syndrome (NCIt: C125592)
Holt-Oram syndrome (ORDO: Orphanet_392)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5EQ (DHMi005-A)
Children:
CVCL_D0E0 (DHMi005-A-5)CVCL_D0E1 (DHMi005-A-6)CVCL_D0E2 (DHMi005-A-7)
Sex of cell Male
Age at sampling 29Y
Category Induced pluripotent stem cell
Publications

PubMed=35121196; DOI=10.1016/j.scr.2022.102691
Harald Lahm, Paul Heinrich, Elisabeth Zierler, Elda Dzilic, Irina Neb, Tatjana Luzius, Stefanie A. Doppler, Stephanie Schneider, Rudiger Lange, Markus Krane, Martina Dressen;
Generation of a CRISPR/Cas edited human induced pluripotent stem cell line DHMi005-A-1 carrying a patient-specific disease-causing point mutation in the TBX5 gene.
Stem Cell Res. 60:102691-102691(2022)

Cross-references
Cell line databases/resources hPSCreg; DHMi005-A-1
Biological sample resources BioSamples; SAMEA11744856
Encyclopedic resources Wikidata; Q111733156
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6