Biobank

BIOBANK OF SKELETAL MUSCLE, PERIPHERAL NERVE, DNA AND CELL CULTURE

Supervisor: Prof. M. Moggio

Co-Head: Dr. M. Sciacco

Tel: 02-55036504

Fax: 02-55033827

E-mail: maurizio.moggio @ unimi.it

The ” Biobank of skeletal muscle , peripheral nerve , DNA and cell culture ” is part of the UOD and Rare Neuromuscular Diseases and was set up with the aim of collecting and storing biological samples , making them available for research purposes and for possible both for diagnostic purposes when new scientific knowledge allow a nosographic that at the time of storage was not possible .

Since 1999 is partly funded by the Telethon Foundation ( Project GTB12001 From 2013 for a period of 5 years – Telethon Network of Genetic Biobanks ( http://www.biobanknetwork.org/ ) ) .

Since 2002 he has become a partner of the project EuroBioBank ( http://www.eurobiobank.org/ ), funded by the European Community , coordinated by Eurordis first (European Organization for Rare Diseases ) and currently Telethon .

From 2002 to July 2005, the Bank has a quality management system with ISO 9001 certification issued by Det Norske Veritas.

Since July 2005, the Bank’s quality system is certified by BVQI .

Since July 2013, joined the European Research Infrastructure for Biobanking and Biomolecular Resources Research Infrastructure ( BBMRI ) .

The Biobank and ‘ managed in collaboration with the Unit of Neurology , with Prof. N.Bresolin GPComi and Professor of the Laboratory of Biochemistry and Genetics, Department of Neurological Sciences, ‘ University of Milan, Fondazione IRCCS Cà Granda Hospital Maggiore Policlinico of Milan.

The Biobank contains a considerable number of biological samples from patients with different rare neuromuscular diseases , which are analyzed with both diagnostic and research purposes . Currently stored in the Biobank are over 10,000 biopsies of skeletal muscle , approximately 4232 inclusions in resin for Electron Microscopy and 438 samples of peripheral nerve for morphological studies . They are also available DNA samples and cell cultures.

Biological Samples Stored according to pathology:

Tabella dei campioni biologici conservati nella Biobanca

Name of Disease ICD10
Identifier
ICD10
Name
MIM
Number
ORPHA
Number
N. samples Muscle tissue N. samples DNA N. samples Myoblasts N. samples Fibroblasts
Duchenne dystrophy, DMD G71.0 Muscular Dystrophy 310200 98896 182 214 68 41
Becker dystrophy, BMD G71.0 Muscular Dystrophy 300376 98895 84 225 44 50
DMD/BMD carrier G71.0 Muscular Dystrophy 310200 262 32 29 17 20
Relatives of distrophinopathic pts Muscular Dystrophy 0 381 0 0
LGMD2A, calpainopathy G71.0 Muscular Dystrophy 253600 267 0 0 2 2
LGMD2B, dysferlinopathy G71.0 Muscular Dystrophy 253601 268 14 46 2 2
LGMD2C, gamma-sarcoglycanopathy G71.0 Muscular Dystrophy 253700 353 14 69 2 2
LGMD2D, alpha-sarcoglycanopathy G71.0 Muscular Dystrophy 608099 62 4 4 1 1
LGMD2E, beta-sarcoglycanopathy G71.0 Muscular Dystrophy 604286 119 6 12 3 3
LGMD2F, delta-sarcoglycanopathy G71.0 Muscular Dystrophy 601287 219 6 9 2 2
LGMD2I, FKRP G71.0 Muscular Dystrophy 607155 34515 2 0 1 1
LGMD1B, LMNA G71.0 Muscular Dystrophy 159001 264 4 8 2 2
LGMD1C, caveolinopathy G71.0 Muscular Dystrophy 607801 265 37 63 4 4
Other LGMD G71.0 Muscular Dystrophy 58 54 1 1
Facio-scapulo-humeral, FSHD1 G71.0 Muscular Dystrophy 158900 269 59 6 11 9
Merosinopathy, LAMA2 G71.2 Congenital Myopathies 607855 258 4 1 0 0
Congenital dystrophies G71.2 Congenital Myopathies 606612 97242 26 17 9 9
Myotonic dystrophy, Steinert, DM1 G71.1 Myotonic Disorders 160900 273 56 73 7 6
Thomsen Becker disease CLCN1 channel G71.1 Myotonic Disorders 160800 614 2 2 0 0
Selenoproteine (SEPN1) G71.2 Congenital Myopathies 606210 209193 0 3 0 0
HypoKaliemic Periodic paralysis G72.3 Periodic paralysis 170400 681 6 0 0 0
Oculo-pharyngeal G71.0 Muscular Dystrophy 164300 270 13 4 5 4
Nemaline myopathy G71.2 Congenital Myopathies 256030 607 3 1 2 2
Centralcore myopathy G71.2 Congenital Myopathies 117000 597 7 1 3 3
Minicore myopathy G71.2 Congenital Myopathies 255320 598 4 2 3 3
Centronuclear myopathy G71.2 Congenital Myopathies 602378 595 2 1 0 0
Myotubular myopathy, MTMX G71.2 Congenital Myopathies 310400 596 5 0 1 1
Fiber type disproportion G71.2 Congenital Myopathies 255310 2020 5 2 4 5
Tubular aggregates G71.2 Congenital Myopathies 160565 2593 13 1 1 1
Morbo di Basedow E05.5 Hypethyroidism 181399 2 0 0 0
Myofibrillar myopathies G72.8 Congenital Myopathies 601419 593 10 2 4 5
Glycogenosis type II, including Pompe E74.0 Glycogen Storage Disease 232300 365 109 11 18 28
Glycogenosis type V, Mc Ardle E74.0 Glycogen Storage Disease 232600 368 19 0 11 11
Glycogenosis type III E74.0 Glycogen Storage Disease 232400 366 9 45 20 20
Glycogenosis type VII E74.0 Glycogen Storage Disease 232800 371 1 0 5 5
Glycogenosis type XIII E74.0 Glycogen Storage Disease 131370 99849 1 0 0 0
MAD deficiency E71.3 102770 26791 37 8 3 3
MtDNA macrodeletions Mitochondrial Myopathy 35697 88 59 25 24
MtDNA multiple deletions Mitochondrial Myopathy 35697 82 130 40 30
LEBER H47 Mitochondrial Myopathy 535000 104 4 37 0 0
MERRF G40.3 Mitochondrial Myopathy not elsewhere classified 545000 551 26 39 6 6
MELAS G71.3 Mitochondrial Myopathy not elsewhere classified 540000 550 24 38 5 5
NARP G31.8 Mitochondrial Myopathy 551500 644 2 3 0 0
PEO 3243 point mutations G71.3 Mitochondrial Myopathy not elsewhere classified 540000 550 9 9 1 1
Other mtDNA point mutations Mitochondrial Myopathy 540000 35697 23 45 4 12
MtDNA depletion Q99.8 Mitochondrial Myopathy 609560 35698 9 15 0 0
Other mitochondrial disorders G71.3 Mitochondrial Myopathy 540000 35698 306 248 54 35
Lipid storage myopathy G73 Lipid storage disorder unspecified 255100 206953 51 28 2 2
LCAD deficiency E71.3 Mitochondrial Myopathy 201460 99900 6 0 0 0
MCAD deficiency E71.3 Lipid storage disorder unspecified 201450 42 1 0 0 0
CPT deficiency E71.3 Disorders of fatty-acid metabolism 255110 157 16 36 1 1
Inflammatory Myopathies M60.8 Inflammatory Myopathies 160750 48918 739 47 109 82
IBM M60.8 Inflammatory Myopathies not elsewhere classified 147421 611 57 18 15 14
Critical Illness Myopathy 12 0 0 0
Myasthenia Gravis G70.0 Myasthenia Gravis 254200 589 17 0 0 0
Malignant hyperthermia T88.3 Malignant hyperthermia 145600 423 12 192 1 0
Corea di Huntington G10 Huntington’s disease 143100 399 2 0 0 0
Essential hyperckemia 138 62 39 32
Spinal muscular atrophy, SMA-1,2,3 G12.0 Spinal muscular atrophy and related syndroms 253550 70 55 54 3 13
Spinal bulbar muscular atrophy, Kennedy G12.2 Other spinal muscular atrophy and related syndroms 313200 481 3 8 0 0
Amyotrophic lateral sclerosis G12.2 Motor neuron disease 105400 803 115 101 21 28
Mild non specific myopathic signs 1250 944 192 192
Mild non specific neurogenic signs 783 24 32 33
Normal muscle biopsy Controls 1223 56 175 153
Dilatative idiopathic cardiomyopathy I42.0 Dilated cardiomyopathy 115200 83618 5 0 0 0
Secondary dilatative cardiomyopathy I42.0 Dilated cardiomyopathy 217629 3 0 0 0
Myocarditis Cardiomyopathy 3 0 0 0
Ischemic cardiopathy Cardiopathy 4 0 0 0
Degenerative neuropathy (hereditary and acquired) G60.8 Degenerative neuropathies 162400 36386 504 1 1 1
Inflammatory neuropathy G72.4 Inflammatory neuropathies 60 2 0 0
Normal nerve biopsy Controls 25 0 0 0
Spastic Paraparesis (Paraplegin. Def.) G11.4 Hereditary spastic paraplegia 602783 685 1 7 1 1
S. of Down Q90 Genetic diseases 190685 870 1 186 0 26



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