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Cellosaurus LIBDi011-A (CVCL_A4WM)

[Text version]
Cell line name LIBDi011-A
Synonyms PTHS1022.05
Accession CVCL_A4WM
Resource Identification Initiative To cite this cell line use: LIBDi011-A (RRID:CVCL_A4WM)
Comments From: Lieber Institute for Brain Development; Baltimore; USA.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11634; TCF4; Simple; p.Arg76Ter; Zygosity=Heterozygous (PubMed=32971458).
Disease Pitt-Hopkins syndrome (NCIt: C129872)
Pitt-Hopkins syndrome (ORDO: Orphanet_2896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=32971458; DOI=10.1016/j.scr.2020.102001; PMCID=PMC7592084
Sripathy S.R., Wang Y., Moses R.L., Fatemi A., Batista D.A.S., Maher B.J.
Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins syndrome.
Stem Cell Res. 48:102001-102001(2020)

Cross-references
Cell line databases/resources hPSCreg; LIBDi011-A
Encyclopedic resources Wikidata; Q107115647
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5