Cellosaurus cell line BCHi007-A-1 (CVCL

Cross-references
Cell line name	BCHi007-A-1
Synonyms	HNDS0005-01 #B2 +/+
Accession	CVCL_D6RW
Resource Identification Initiative	To cite this cell line use: BCHi007-A-1 (RRID:CVCL_D6RW)
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; 408; ALDH5A1; Simple_corrected; p.Gly409Asp (c.1226G>A); ClinVar=VCV000001359; 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_D6RV (BCHi007-A)
Sex of cell	Female
Age at sampling	21Y
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; BCHi007-A-1
Biological sample resources	BioSamples; SAMEA115476582
Entry history
Entry creation	10-Sep-2024
Last entry update	10-Sep-2024
Version number	1