ID   CD#60 ipsC
AC   CVCL_A5RL
DR   Wikidata; Q107114632
RX   PubMed=33304759;
CC   Sequence variation: Mutation; HGNC; 756; ASPA; Simple; p.Gly176Asp (c.527C>A); Zygosity=Heterozygous (PubMed=33304759).
CC   Sequence variation: Mutation; HGNC; 756; ASPA; Simple; p.Ala305Glu (c.914C>A); ClinVar=VCV000002607; Zygosity=Heterozygous (PubMed=33304759).
CC   Derived from site: In situ; Brain; UBERON=UBERON_0000955.
CC   Cell type: Fibroblast; CL=CL_0000057.
ST   Source(s): PubMed=33304759
ST   Amelogenin: X,Y
ST   CSF1PO: 11
ST   D13S317: 8,11
ST   D16S539: 12
ST   D21S11: 30,31.2
ST   D5S818: 11,12
ST   D7S820: 11
ST   TH01: 6,9.3
ST   TPOX: 8,11
ST   vWA: 14,18
DI   NCIt; C84611; Canavan disease
DI   ORDO; Orphanet_141; Canavan disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0P15 ! GM00060
SX   Male
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 5
//
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).
//