ID   BCHi007-A-1
AC   CVCL_D6RW
SY   HNDS0005-01 #B2 +/+
DR   BioSamples; SAMEA115476582
DR   hPSCreg; BCHi007-A-1
RX   PubMed=38677032;
CC   From: Children's Hospital Boston; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 408; ALDH5A1; Simple_corrected; p.Gly409Asp (c.1226G>A); ClinVar=VCV000001359; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=38677032).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C206527; Succinic semialdehyde dehydrogenase deficiency
DI   ORDO; Orphanet_22; Succinic semialdehyde dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D6RV ! BCHi007-A
SX   Female
AG   21Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
//
RX   PubMed=38677032; DOI=10.1016/j.scr.2024.103424; PMCID=PMC11178435;
RA   Afshar-Saber W., Chen C.-D., Teaney N.A., Kim K., Yang Z.-Q.,
RA   Gasparoli F.M., Ebrahimi-Fakhari D., Buttermore E.D.,
RA   Chen I.P.-F., Pearl P.L., Sahin M.;
RT   "Generation and characterization of six human induced pluripotent stem
RT   cell lines (hiPSCs) from three individuals with SSADH deficiency and
RT   CRISPR-corrected isogenic controls.";
RL   Stem Cell Res. 77:103424-103424(2024).
//