ID   CD#68T-13 iPSC
AC   CVCL_A5RU
SY   CD68T-13 iPSC
DR   Wikidata; Q107114635
RX   PubMed=33304759;
CC   Population: Jewish.
CC   Characteristics: Using TALEN a EF1a promoter-ASPA-T2A-CD19t construct was introduced in the AAVS1 safe harbor locus (PubMed=33304759).
CC   Sequence variation: Mutation; HGNC; 756; ASPA; Simple; p.Glu285Ala (c.854A>C); ClinVar=VCV000002605; Zygosity=Homozygous (PubMed=33304759).
CC   Genetic integration: Method=TALEN; Gene=HGNC; 756; ASPA.
CC   Genetic integration: Method=TALEN; Gene=HGNC; 1633; CD19 (Note=With p.Lys324_Arg556del = CD19t).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84611; Canavan disease
DI   ORDO; Orphanet_141; Canavan disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A5RM ! CD#68 iPSC
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 10-09-24; Version: 6
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RX   PubMed=33304759; DOI=10.1002/advs.202002155; PMCID=PMC7709977;
RA   Feng L.-Z., Chao J.-F., Tian E., Li L., Ye P., Zhang M., Chen X.-W.,
RA   Cui Q., Sun G.-H., Zhou T., Felix G., Qin Y., Li W.-D., Meza E.D.,
RA   Klein J., Ghoda L.Y., Hu W.-D., Luo Y.-L., Dang W., Hsu D., Gold J.D.,
RA   Goldman S.A., Matalon R.K., Shi Y.-H.;
RT   "Cell-based therapy for Canavan disease using human iPSC-derived NPCs
RT   and OPCs.";
RL   Adv. Sci. (Weinh.) 7:2002155.1-2002155.19(2020).
//