Cellosaurus cell line BCHi005-A (CVCL

Cross-references
Cell line name	BCHi005-A
Synonyms	HNDS0083-01 #B
Accession	CVCL_A7KH
Resource Identification Initiative	To cite this cell line use: BCHi005-A (RRID:CVCL_A7KH)
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; 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_A7KI ! BCHi005-B
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)
Cell line databases/resources	hPSCreg; BCHi005-A
Encyclopedic resources	Wikidata; Q107113444
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6