Cellosaurus cell line BCHi001-A (CVCL

Cellosaurus BCHi001-A (CVCL_A7JZ)

Cross-references
Cell line name	BCHi001-A
Synonyms	HNDS0022-01 #A
Accession	CVCL_A7JZ
Resource Identification Initiative	To cite this cell line use: BCHi001-A (RRID:CVCL_A7JZ)
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; HGNC:11411; CDKL5; Simple; p.Val718Met (c.2152G>A); ClinVar=VCV000143796; 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_A7KA ! BCHi001-B
Sex of cell	Male
Age at sampling	4Y
Category	Induced pluripotent stem cell
Publications	PubMed=33714067; DOI=10.1016/j.scr.2021.102276; PMCID=PMC8953930 Ivy Pin-Fang Chen, Teresa Chen, Taylor E. Forman, Amanda C. Swanson, Benjamin O'Kelly, Sean A. Dwyer, Elizabeth D. Buttermore, Robin Kleiman, Sheridan J.S. Carrington, Daniel J. Lavery, Lindsay C. Swanson ...Show all 13 authors... , Heather Elisa Olson, Mustafa Sahin; Show fewer authors 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; BCHi001-A
Encyclopedic resources	Wikidata; Q107113436
Entry history
Entry creation	20-May-2021
Last entry update	19-Dec-2024
Version number	6