ID   FFF0082001
AC   CVCL_A5RS
SY   CD#01; 22276; TNGB-22276
DR   TNGB; TNGB-22276
DR   Wikidata; Q107114963
RX   PubMed=33304759;
CC   Sequence variation: Mutation; HGNC; HGNC:756; ASPA; Simple; p.Glu129Argfs*8 (c.382delC); ClinVar=VCV000551932; Zygosity=Heterozygous (PubMed=33304759).
CC   Sequence variation: Mutation; HGNC; HGNC:756; ASPA; Simple; p.Arg168Cys (c.502C>T); ClinVar=VCV000813438; Zygosity=Heterozygous (PubMed=33304759).
CC   Sequence variation: Mutation; HGNC; HGNC:756; ASPA; Simple; p.Tyr231Tyr (c.693C>T); ClinVar=VCV000197621; Zygosity=Heterozygous (PubMed=33304759).
CC   Cell type: Fibroblast; CL=CL_0000057.
ST   Source(s): PubMed=33304759
ST   Amelogenin: X,Y
ST   CSF1PO: 12,13
ST   D13S317: 11,12
ST   D16S539: 9,10
ST   D21S11: 30,31
ST   D5S818: 12
ST   D7S820: 10
ST   TH01: 7,9.3
ST   TPOX: 8,12
ST   vWA: 14,17
DI   NCIt; C84611; Canavan disease
DI   ORDO; Orphanet_141; Canavan disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   7M
CA   Induced pluripotent stem cell
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
//
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).
//