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Cellosaurus BCHi005-B (CVCL_A7KI)

[Text version]
Cell line name BCHi005-B
Synonyms HNDS0083-01 #D
Accession CVCL_A7KI
Resource Identification Initiative To cite this cell line use: BCHi005-B (RRID:CVCL_A7KI)
Comments From: Children's Hospital Boston; Boston; USA.
Population: Latino or Hispanic.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 11411; CDKL5; Simple; p.Arg550Ter (c.1648C>T); ClinVar=VCV000143780; Zygosity=Heterozygous (PubMed=33714067).
Disease Developmental and epileptic encephalopathy 2 (NCIt: C147070)
CDKL5-related epileptic encephalopathy (ORDO: Orphanet_505652)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A7KH ! BCHi005-A
Sex of cell Female
Age at sampling 1Y10M
Category Induced pluripotent stem cell
Publications

PubMed=33714067; DOI=10.1016/j.scr.2021.102276; PMCID=PMC8953930
Chen I.P.-F., Chen T., Forman T.E., Swanson A.C., O'Kelly B., Dwyer S.A., Buttermore E.D., Kleiman R., Carrington S.J.S., Lavery D.J., Swanson L.C., Olson H.E., Sahin M.
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 deficiency disorder (CDD).
Stem Cell Res. 53:102276-102276(2021)

Cross-references
Cell line databases/resources hPSCreg; BCHi005-B
Encyclopedic resources Wikidata; Q107113445
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5