ID   29a
AC   CVCL_8999
AS   CVCL_B520
SY   29A; A29a; 29a-ALS; iPS29A
DR   ISCR; 210
DR   SKIP; SKIP004437
DR   Wikidata; Q54584269
RX   PubMed=18669821;
RX   PubMed=21293464;
RX   PubMed=21368825;
CC   From: Harvard University; Boston; USA.
CC   Sequence variation: Mutation; HGNC; 11179; SOD1; Simple; p.Leu145Phe (c.435G>C) (L144F); ClinVar=VCV000586637; Zygosity=Unspecified (PubMed=21293464).
CC   Omics: Deep exome analysis.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_9000 ! 29b
OI   CVCL_B522 ! 29c
OI   CVCL_9001 ! 29d
OI   CVCL_9002 ! 29e
SX   Female
AG   82Y
CA   Induced pluripotent stem cell
DT   Created: 06-06-12; Last updated: 29-06-23; Version: 19
//
RX   PubMed=18669821; DOI=10.1126/science.1158799;
RA   Dimos J.T., Rodolfa K.T., Niakan K.K., Weisenthal L.M., Mitsumoto H.,
RA   Chung W.K., Croft G.F., Saphier G., Leibel R.L., Goland R.S.,
RA   Wichterle H., Henderson C.E., Eggan K.C.;
RT   "Induced pluripotent stem cells generated from patients with ALS can
RT   be differentiated into motor neurons.";
RL   Science 321:1218-1221(2008).
//
RX   PubMed=21293464; DOI=10.1038/nbt.1783;
RA   Boulting G.L., Kiskinis E., Croft G.F., Amoroso M.W., Oakley D.H.,
RA   Wainger B.J., Williams D.J., Kahler D.J., Yamaki M., Davidow L.S.,
RA   Rodolfa C.T., Dimos J.T., Mikkilineni S., MacDermott A.B., Woolf C.J.,
RA   Henderson C.E., Wichterle H., Eggan K.C.;
RT   "A functionally characterized test set of human induced pluripotent
RT   stem cells.";
RL   Nat. Biotechnol. 29:279-286(2011).
//
RX   PubMed=21368825; DOI=10.1038/nature09805;
RA   Gore A., Li Z., Fung H.-L., Young J.E., Agarwal S.,
RA   Antosiewicz-Bourget J., Canto I., Giorgetti A., Israel M.A.,
RA   Kiskinis E., Lee J.-H., Loh Y.-H., Manos P.D., Montserrat N.,
RA   Panopoulos A.D., Ruiz S., Wilbert M.L., Yu J.-Y., Kirkness E.F.,
RA   Izpisua Belmonte J.C., Rossi D.J., Thomson J.A., Eggan K.C., Daley G.Q.,
RA   Goldstein L.S.B., Zhang K.;
RT   "Somatic coding mutations in human induced pluripotent stem cells.";
RL   Nature 471:63-67(2011).
//