ID   SDQLCHi064-A
AC   CVCL_C9JP
DR   BioSamples; SAMEA115098521
DR   hPSCreg; SDQLCHi064-A
DR   Wikidata; Q123033474
RX   PubMed=38309148;
CC   From: Qilu Children's Hospital of Shandong University; Jinan; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; HGNC:756; ASPA; Simple; p.Leu187Argfs*5 (c.556_559dupGTTC); Zygosity=Heterozygous (PubMed=38309148).
CC   Sequence variation: Mutation; HGNC; HGNC:756; ASPA; Simple; p.Ser307Valfs*24 (c.919delA); Zygosity=Heterozygous (PubMed=38309148).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84611; Canavan disease
DI   ORDO; Orphanet_141; Canavan disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   5M
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 4
//
RX   PubMed=38309148; DOI=10.1016/j.scr.2024.103325;
RA   Liu N., Ge Y.-S., Yang Y.-N., Zhao F., Lv Y.-Q., Li Z.-L., Dong R.,
RA   Liu Y., Gai Z.-T.;
RT   "Human induced pluripotent stem cell line (SDQLCHi064-A) derived from
RT   a patient with Canavan disease carrying c.556_559dup GTTC and
RT   c.919delA mutations in the ASPA gene.";
RL   Stem Cell Res. 76:103325-103325(2024).
//