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Cellosaurus WAe009-A-49 (CVCL_A7HB)

[Text version]
Cell line name WAe009-A-49
Synonyms TPP1 c.509-1G > C, clone #23; EMe-TPint5GC23: H9 TPP1 INT5 SA#23; BROWNe010-A-49
Accession CVCL_A7HB
Resource Identification Initiative To cite this cell line use: WAe009-A-49 (RRID:CVCL_A7HB)
Comments From: Brown University; Providence; USA.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; 2073; TPP1; Simple_edited; c.509-1G>C (IVS5-1G>C); ClinVar=VCV000002644; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=33845243).
Disease Neuronal ceroid lipofuscinosis type 2 (NCIt: C85864)
Congenital neuronal ceroid lipofuscinosis (ORDO: Orphanet_168486)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_9773 (WA09)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
Publications

PubMed=33845243; DOI=10.1016/j.scr.2021.102323; PMCID=PMC9173593
Ma L., Prada A.M., Schmidt M., Morrow E.M.
Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease.
Stem Cell Res. 53:102323-102323(2021)

Cross-references
Cell line databases/resources hPSCreg; WAe009-A-49
Encyclopedic resources Wikidata; Q107117424
Entry history
Entry creation20-May-2021
Last entry update10-Sep-2024
Version number6