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Search Results for - "PIGI"

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Description
 
Product
 
Source
(Showing Items: 50)
 
 
 
 
TURNER SYNDROME
 
iPSC
 
Blood
 
 
 
 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | TRANSPORTIN 2; TNPO2
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT | APPARENTLY HEALTHY INDIVIDUAL
 
iPSC
 
Blood
 
 
 
 
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | ZC4H2 ASSOCIATED RARE DISORDERS | ZINC FINGER C4H2 DOMAIN-CONTAINING PROTEIN; ZC4H2
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Fibroblast
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Fibroblast
 
 
 
 
HELSMOORTEL-VAN DER AA SYNDROME; HVDAS | ACTIVITY-DEPENDENT NEUROPROTECTOR HOMEOBOX; ADNP
 
iPSC
 
Blood
 
 
 
 
CHROMOSOME XP11.3 DELETION SYNDROME
 
iPSC
 
Blood
 
 
 
 
MYOPATHY, DISTAL, 5; MPD5 | ADENYLOSUCCINATE SYNTHASE 1; ADSS1
 
iPSC
 
Blood
 
 
 
 
NESCAV SYNDROME; NESCAVS | KINESIN FAMILY MEMBER 1A; KIF1A
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Blood
 
 
 
 
NESCAV SYNDROME; NESCAVS | KINESIN FAMILY MEMBER 1A; KIF1A
 
iPSC
 
Blood
 
 
 
 
CHROMOSOME XP11.3 DELETION SYNDROME | MONOAMINE OXIDASE A; MAOA | MONOAMINE OXIDASE B; MAOB
 
iPSC
 
Blood
 
 
 
 
MYOPATHY, DISTAL, 5; MPD5 | ADENYLOSUCCINATE SYNTHASE 1; ADSS1
 
iPSC
 
Blood
 
 
 
 
NESCAV SYNDROME; NESCAVS | KINESIN FAMILY MEMBER 1A; KIF1A
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
B-Lymphocyte
 
 
 
 
SELENON-RELATED MYOPATHY; RIGID SPINE MUSCULAR DYSTROPHY 1; RSMD1 | SELENOPROTEIN N, 1; SEPN1
 
iPSC
 
Blood
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1
 
iPSC
 
Fibroblast
 
 
 
 
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5; NBIA5 | BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION; BPAN | WD REPEAT-CONTAINING PROTEIN 45; WDR45
 
iPSC
 
Fibroblast
 
 
 
 
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD | NEMALINE MYOPATHY 3; NEM3 | ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
 
iPSC
 
Blood
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1
 
iPSC
 
Fibroblast
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
B-Lymphocyte
 
 
 
 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 | CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1
 
iPSC
 
Fibroblast
 
 
 
 
ISOGENIC CONTROL | GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1 | SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; SLC2A1
 
iPSC
 
Fibroblast
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1
 
iPSC
 
Fibroblast
 
 
 
 
RETT SYNDROME, CONGENITAL VARIANT | FORKHEAD BOX G1; FOXG1
 
iPSC
 
Fibroblast
 
 
 
 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 | CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1 | HYPERCHOLESTEROLEMIA, FAMILIAL, 2; FHCL2 | APOLIPOPROTEIN B; APOB
 
iPSC
 
Blood
 
 
 
 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40 | CHROMOSOME ALIGNMENT-MAINTAINING PHOSPHOPROTEIN 1; CHAMP1 | GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
 
iPSC
 
Blood
 
 
 
 
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 | SYNAPTIC RAS-GTPASE-ACTIVATING PROTEIN 1; SYNGAP1
 
iPSC
 
Fibroblast
 
 
 
 
NESCAV SYNDROME; NESCAVS | KINESIN FAMILY MEMBER 1A; KIF1A
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
B-Lymphocyte
 
 
 
 
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2 | NEBULIN; NEB
 
iPSC
 
Blood
 
 
 
 
ISOGENIC CONTROL | CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1
 
iPSC
 
Fibroblast
 
 
 
 
BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-1; COL6A1
 
iPSC
 
Blood
 
 
 
 
CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | GUANIDINOACETATE METHYLTRANSFERASE; GAMT
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Blood
 
 
 
 
NESCAV SYNDROME; NESCAVS | KINESIN FAMILY MEMBER 1A; KIF1A
 
iPSC
 
Blood
 
 
 
 
BETHLEM MYOPATHY | COLLAGEN, TYPE VI, ALPHA-1; COL6A1
 
iPSC
 
Blood
 
 
 
 
LEIGH SYNDROME; LS | SURFEIT 1; SURF1
 
iPSC
 
Fibroblast
 
 
 
 
PRADER-WILLI SYNDROME; PWS | SMALL NUCLEAR RIBONUCLEOPROTEIN POLYPEPTIDE N; SNRPN
 
iPSC
 
Blood
 
 
 
 
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD | SODIUM LEAK CHANNEL, NONSELECTIVE; NALCN
 
iPSC
 
Fibroblast
 
 
 
 
ULLRICH CONGENITAL MUSCULAR DYSTROPHY; UCMD1 | COLLAGEN, TYPE VI, ALPHA-1; COL6A1
 
iPSC
 
Blood
 
 
 
 
PERSONAL GENOME PROJECT
 
iPSC
 
Blood

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