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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; 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
Lahm H., Heinrich P., Zierler E., Dzilic E., Neb I., Luzius T., Doppler S.A., Schneider S., Lange R., Krane M., Dressen M.
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 update05-Oct-2023
Version number5