ID   GM00060
AC   CVCL_0P15
SY   GM-60; GM00060A; CD#60
DR   CLO; CLO_0025159
DR   Coriell; GM00060
DR   Wikidata; Q54836010
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=33304759;
CC   Sequence variation: Mutation; HGNC; HGNC:756; ASPA; Simple; p.Gly176Asp (c.527C>A); Zygosity=Heterozygous (PubMed=33304759).
CC   Sequence variation: Mutation; HGNC; 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)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 15
CH   CVCL_A5RL ! CD#60 ipsC
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell, Lewis Lemon
RA   Greene, Arthur E.
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=33304759; DOI=10.1002/advs.202002155; PMCID=PMC7709977;
RA   Feng, Li-Zhao
RA   Chao, Jian-Fei
RA   Tian, E.
RA   Li, Li
RA   Ye, Peng
RA   Zhang, Mi
RA   Chen, Xian-Wei
RA   Cui, Qi
RA   Sun, Gui-Hua
RA   Zhou, Tao
RA   Felix, Gerardo
RA   Qin, Yue
RA   Li, Wen-Dong
RA   Meza, Edward David
RA   Klein, Jeremy
RA   Ghoda, Lucy Y.
RA   Hu, Wei-Dong
RA   Luo, Yong-Lun
RA   Dang, Wei
RA   Hsu, David
RA   Gold, Joseph D.
RA   Goldman, Steven A.
RA   Matalon, Reuben Karl
RA   Shi, Yan-Hong
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).
//