No name

1
http//www.stemride.com
http//www.reproductivegenetics.com/



   
   
   
2
Human Embryonic Stem Cell Lines with Genetic and
Chromosomal Disorders Yury Verlinsky, Nick
Strelchenko, Valeri Kukharenko, Artem Shkumatov,
Svetlana Rechitsky, Oleg Verlinsky, Anver Kuliev
Reproductive Genetics Institute, Chicago IL
Human embryonic stem cell (hESC) lines with
abnormal genotypes provide an unlimited source
for analysing the primary mechanisms of
congenital disorders, and the development of the
methods for cellular therapy. Based on our
ongoing preimplantation genetic diagnosis (PGD)
program, which currently includes, over 7000 PGD
cycles for single gene and chromosomal
disorders, we have presently developed the
genetic disease specific hESC line repository,
consisting of a total of 87 genetically abnormal
lines. It contains fourteen hESC lines with
chromosomal abnormalities, including four
translocations, five trisomies, one triploidy and
four sex chromosomal aneuploidies, and 73 with
different single gene disorders, Twenty four
obtained from the embryos with autosomal
recessive, fourteen X-linked and thirty five
autosomal dominant disorders, the latter
including hESC lines with dynamic mutations and
those with genetic predisposition to cancer. The
resulting collection represents the worlds first
hESC line bank with genetic disorders, currently
available for stem cell research of genetic and
acquired disorders (www.stemride.com).
3

• Total RGI Collection include 310 hESC lines
  where
• 70 hESC lines established on human feeder layer
  and animal derivatives free potential for clinic
  application.
• 73 hESC lines derived from genetic affected
  embryos (after PGD)
• 14 hESC lines derived from cytogenetic affected
  embryos

4
List of human embryonic stem cell lines
withgenetic and chromosomal disorders

• Autosomal dominant
• BREAST CANCER, FAMILIAL (BRCA2) affected (N/IVS7
  GT del)
• BREAST CANCER, FAMILIAL (BRCA2) affected (N/IVS7
  GT del) MULTIPLE ENDOCRINE
• 
  NEOPLASIA, TYPE I MEN1 affected (N/3036 4bp del)
• HUNTINGTON DISEASE HD, affected, expansion (n
  7)
• MARFAN SYNDROME MFS, affected, G7712A/N
• DYSTROPHIA MYOTONICA 1, affected, expansion (n
  2)
• NEUROFIBROMATOSIS, TYPE I NF, affected, (n 7)
• TORSION DYSTONIA 1, AUTOSOMAL DOMINANT DYT1,
  affected, Exon 7 GAG deletion (n 3)
• TREACHER COLLINS-FRANCESCHETTI SYNDROME TCOF,
  affected (Nt. 4374 ins. A/N) (n 3)
• TUBEROUS SCLEROSIS TYPE 1, affected (n 2)
• POPLITEAL PTERYGIUM SYNDROME PPS, affected
• FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A
  FSHMD1A, affected (n7)
• Subtotal n 35

5
List of human embryonic stem cell lines
withgenetic and chromosomal disorders

• Autosomal recessive
• HEMOGLOBINALPHA LOCUS HBA, affected ( ? ? / ?
  ? )
• HEMOGLOBIN--BETA LOCUS HBB, affected (cd39 /
  IVS1-110)
• HEMOGLOBIN--BETA LOCUS HBB, affected (cd8G
  /619del)
• HEMOGLOBIN--BETA LOCUS HBB, affected (HbS/HbS -
  sickle cell anemia)
• HEMOGLOBIN--BETA LOCUS HBB, affected (IVS1-5 /
  Cd8G)
• HEMOGLOBIN--BETA LOCUS HBB, affected (IVSI-6
  /IVSI-6)
• HEMOGLOBIN--BETA LOCUS HBB, affected (Unknown /
  IVSII-1)
• HEMOGLOBIN--BETA LOCUS HBB, affected (Unknown /
  IVSII-1)
• HEMOGLOBIN--BETA LOCUS HBB, carrier (N / IVS
  1-1)
• HEMOGLOBIN--BETA LOCUS HBB, carrier (N/
  IVS1-110)
• CYSTIC FIBROSIS affected (?F508 / 1717-1 GA)
• CYSTIC FIBROSIS affected (?F508 / 1717-1 GA)
• CYSTIC FIBROSIS affected (?F508/?F508)
• CYSTIC FIBROSIS affected (?F508/?F508)
• CYSTIC FIBROSIS affected (?F508/?F508)
• CYSTIC FIBROSIS affected (?F508/?F508)
• CYSTIC FIBROSIS affected (N1303K / ?F508)

6
List of human embryonic stem cell lines
withgenetic and chromosomal disorders

• X-linked
• ALBINISM, OCULAR, TYPE I OA1, (c.251del C),
  affected male
• ALBINISM, OCULAR, TYPE I OA1, (N / c.251del C),
  carrier
• ADRENOLEUKODYSTROPHY ALD, (1801 del AG) affected
  male
• MUSCULAR DYSTROPHY, BECKER TYPE BMD, affected
  male
• MUSCULAR DYSTROPHY, DUCHENNE TYPE DMD, affected
  (n 2)
• MUSCULAR DYSTROPHY, DUCHENNE TYPE DMD, carrier
  (n 2)
• EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED
  EDMD, affected male (n 3)
• EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED
  EDMD, carrier
• FRAGILE SITE MENTAL RETARDATION 1 affected male,
  expansion
• FRAGILE SITE MENTAL RETARDATION 1, carrier female
• Subtotal n 14

7
hESC with Cytogenetic Abnormalities (14 lines)
8
Structure of hESC Collection
IVF
hESC
PGD
Markers
Embryo Transfer
Karyotyping hESC
Contamination, PPLO
9
Stemride / RGIhESC Lines World Distribution
Europe 36
North America - 77
Asia - 27
RGI total 310 AD Free 70 Genetic Disorder - 87
Australia - 14