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Cellosaurus BCHi002-B (CVCL_A7KC)

[Text version]
Cell line name BCHi002-B
Synonyms HNDS0039-01 #C
Accession CVCL_A7KC
Resource Identification Initiative To cite this cell line use: BCHi002-B (RRID:CVCL_A7KC)
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.Arg558Thrfs*9 (c.1671dupA) (c.1671_1672insA); ClinVar=VCV000156643; 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_A7KB ! BCHi002-A
Sex of cell Female
Age at sampling 3Y1M
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; BCHi002-B
Encyclopedic resources Wikidata; Q107113439
Entry history
Entry creation20-May-2021
Last entry update29-Jun-2023
Version number5