ID   GM00059
AC   CVCL_0P14
SY   GM-59; GM00059A; CD#59
DR   CLO; CLO_0025162
DR   Coriell; GM00059
DR   Wikidata; Q54836009
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=19815695;
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=19815695; PubMed=33304759).
CC   Sequence variation: Mutation; HGNC; HGNC:4878; HEXA; Simple; p.Arg249Trp (c.745C>T); ClinVar=VCV000126510; Zygosity=Homozygous (Coriell=GM00059).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=33304759
ST   Amelogenin: X
ST   CSF1PO: 11,12
ST   D13S317: 8,11
ST   D16S539: 11,12
ST   D21S11: 30,31.2
ST   D5S818: 10,12
ST   D7S820: 9,11
ST   TH01: 9.3
ST   TPOX: 8,11
ST   vWA: 14,17
DI   NCIt; C84611; Canavan disease
DI   ORDO; Orphanet_141; Canavan disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   1Y5M
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 17
CH   CVCL_A5RK ! CD#59 ipsC
CH   CVCL_B0IF ! GM28249
//
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   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).
//
RX   PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751;
RA   Kalman, Lisa V.
RA   Wilson, Jean Amos
RA   Buller-Burckle, Arlene M.
RA   Dixon, John
RA   Edelmann, Lisa J.
RA   Geller, Louis
RA   Highsmith, William Edward Jr.
RA   Holtegaard, Leonard M.
RA   Kornreich, Ruth
RA   Rohlfs, Elizabeth M.
RA   Payeur, Toby L.
RA   Sellers, Tina
RA   Toji, Lorraine H.
RA   Muralidharan, Kasinathan
RT   "Development of genomic DNA reference materials for genetic testing of
RT   disorders common in people of Ashkenazi Jewish descent.";
RL   J. Mol. Diagn. 11:530-536(2009).
//
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).
//