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; 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: 19-12-24; Version: 2
//
RX   PubMed=38677032; DOI=10.1016/j.scr.2024.103424; PMCID=PMC11178435;
RA   Afshar-Saber, Wardiya
RA   Chen, Ci-Di
RA   Teaney, Nicole A.
RA   Kim, Kristina
RA   Yang, Zi-Qin
RA   Gasparoli, Federico M.
RA   Ebrahimi-Fakhari, Darius
RA   Buttermore, Elizabeth D.
RA   Chen, Ivy Pin-Fang
RA   Pearl, Phillip Lawrence
RA   Sahin, Mustafa
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).
//