Cellosaurus cell line BCHi009-A-1 (CVCL

Cross-references
Cell line name	BCHi009-A-1
Synonyms	HNDS0002-01 #D CC26 +/+
Accession	CVCL_D6RY
Resource Identification Initiative	To cite this cell line use: BCHi009-A-1 (RRID:CVCL_D6RY)
Comments	From: Children's Hospital Boston; Boston; USA. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:408; ALDH5A1; Simple_corrected; p.Trp204Ter (c.612G>A); ClinVar=VCV000001357; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=38677032).
Disease	Succinic semialdehyde dehydrogenase deficiency (NCIt: C206527) Succinic semialdehyde dehydrogenase deficiency (ORDO: Orphanet_22)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy	Parent: CVCL_D6RX (BCHi009-A)
Sex of cell	Male
Age at sampling	20Y
Category	Induced pluripotent stem cell
Publications	PubMed=38677032; DOI=10.1016/j.scr.2024.103424; PMCID=PMC11178435 Afshar-Saber W., Chen C.-D., Teaney N.A., Kim K., Yang Z.-Q., Gasparoli F.M., Ebrahimi-Fakhari D., Buttermore E.D., Chen I.P.-F., Pearl P.L., Sahin M. Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH deficiency and CRISPR-corrected isogenic controls. Stem Cell Res. 77:103424-103424(2024)
Cell line databases/resources	hPSCreg; BCHi009-A-1
Biological sample resources	BioSamples; SAMEA115476585
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2