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Cellosaurus BCHi001-B (CVCL_A7KA)

[Text version]

Cell line name BCHi001-B
Synonyms HNDS0022-01 #D
Accession CVCL_A7KA
Resource Identification Initiative To cite this cell line use: BCHi001-B (RRID:CVCL_A7KA)
Comments From: Children's Hospital Boston; Boston; USA.
Population: Caucasian.
Characteristics: Established from a patient that is mosaic for a CDKL5 p.Val718Met mutation, but this cell line does not contain this mutation.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
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_A7JZ ! BCHi001-A
Sex of cell Male
Age at sampling 4Y
Category Induced pluripotent stem cell
Publications

PubMed=33714067; DOI=10.1016/j.scr.2021.102276
Chen 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; BCHi001-B
Encyclopedic resources Wikidata; Q107113437
Entry history
Entry creation20-May-2021
Last entry update17-Mar-2022
Version number3