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Cellosaurus BCHi003-B (CVCL_A7KE)

[Text version]
Cell line name BCHi003-B
Synonyms HNDS0059-01 #C
Accession CVCL_A7KE
Resource Identification Initiative To cite this cell line use: BCHi003-B (RRID:CVCL_A7KE)
Comments From: Children's Hospital Boston; Boston; USA.
Population: Caucasian.
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.Leu629Ter (c.1886T>A); Zygosity=Mosaic (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_A7KD ! BCHi003-A
Sex of cell Male
Age at sampling 2Y11M
Category Induced pluripotent stem cell

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)

Cell line databases/resources hPSCreg; BCHi003-B
Encyclopedic resources Wikidata; Q107113441
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5