SII-1802

General

Cell Line

hPSCreg name UCSCi001-A
Cite as:
UCSCi001-A (RRID:CVCL_A8ZZ)
Alternative name(s)
SII-1802
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
SAPi004-A
(ALS III, TDP43-A382T/A382T, ALS III-TDP43-A382T/A382T)
Donor diseases:
Amyotrophic lateral sclerosis
SAPi002-A
(ALS I, ALS I–FUS-R514S/wt, FUS-R514S/wt)
Donor diseases:
amyotrophic lateral sclerosis
NIMHi008-A
(NphyiALS1)
Donor's gene variants:
LDB3
Donor diseases:
Amyotrophic Lateral Sclerosis
UHi002-A
(HEL13.1, ALS50)
Donor diseases:
obsolete_amyotrophic lateral sclerosis
UHi003-A
(ALS75, HEL15.14)
Donor diseases:
obsolete_amyotrophic lateral sclerosis
UCLi004-A
(RCi173, RCFB60c6)
Donor's gene variants:
C9orf72, C9orf72
Donor diseases:
Amyotrophic lateral sclerosis
Frontotemporal dementia
UCLi004-B
(RCFB60c7, RCi177)
Donor's gene variants:
C9orf72, C9orf72
Donor diseases:
Amyotrophic lateral sclerosis
Frontotemporal dementia
UCLi004-C
(RCi172, RCFB60c2)
Donor's gene variants:
C9orf72, C9orf72
Donor diseases:
Amyotrophic lateral sclerosis
Frontotemporal dementia
SAPi003-A
(ALS II, FUS-R521C/wt, ALS II–FUS-R521C/wt)
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CSSi012-A
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TARDBP
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Amyotrophic lateral sclerosis
PFIZi013-A
(RCi215, RCFB59 C9)
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TARDBP, TARDBP
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Amyotrophic lateral sclerosis
HVRDi009-A
(29e SOD1 L144F, 29e)
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obsolete_amyotrophic lateral sclerosis
CRICKi005-A
(iFCI004)
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spinal muscular atrophy
CRICKi006-A
(iFCI005)
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spinal muscular atrophy
STBCi320-A
(SFC031-03-03)
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Parkinson disease
LUMCi002-A
(113-6, LUMC0113iATAX06)
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Spinocerebellar Ataxia Type 1
STBCi295-B
(SFC847-03-08)
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Parkinson disease
LUMCi002-B
(113-7, LUMC0113iATAX07)
Donor diseases:
Spinocerebellar Ataxia Type 1
LCPHi003-A
Donor's gene variants:
LRP10
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Parkinson Disease
LUMCi002-C
(113-8, LUMC0113iATAX08)
Donor diseases:
Spinocerebellar Ataxia Type 1
LCSBi013-A
(GL2)
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Parkinson Disease
UMi036-A
(ND34263)
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Parkinson Disease
HIHDNDi001-A
(A30P-3, SNCA3, Tue_020_A)
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SNCA, SNCA, SNCA
Donor diseases:
autosomal dominant Parkinson disease 1
ZZUi013-A
(ZZU-iPS-AD-MEOX2-001)
Donor diseases:
obsolete_Alzheimer's disease
HIHDNDi001-B
(A30P-4, SNCA4, Tue_020_B)
Donor's gene variants:
SNCA, SNCA, SNCA
Donor diseases:
autosomal dominant Parkinson disease 1
ZZUi026-A
(ZZU-iPS-SCA3-003)
Donor diseases:
Spinocerebellar Ataxia Type 3
UTSWi001-A
(FA1)
Donor diseases:
Friedreich Ataxia
DANi002-C
(GBA-002-C3)
Donor's gene variants:
GBA
Donor diseases:
Parkinson Disease
ZZUi027-A
(ZZU-iPS-PD-RAB39b-002)
Donor diseases:
Parkinson Disease
DANi003-H
(GBA-003-C8)
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GBA
Donor diseases:
Parkinson Disease
DANi005-A
(LRRK2-GBA-005-C1)
Donor's gene variants:
GBA, LRRK2
Donor diseases:
Parkinson Disease
LCSBi001-A
(VPS35 1_2)
Donor diseases:
obsolete_Parkinson's disease
DANi007-A
(PINK1-007-C1)
Donor's gene variants:
PINK1
Donor diseases:
Parkinson Disease
FDHSi002-A
(FDITBRi002-A)
Donor diseases:
Parkinson Disease
DANi008-F
(SNCA-008-C6)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson Disease
Last update 14th April 2022
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Provider

Generator Università Cattolica del Sacro Cuore- Fondazione Policlinico Universitario "A. Gemelli" IRCCS (UCSC)
Derivation country Italy

External Databases

BioSamples SAMEA9197919
Cellosaurus CVCL_A8ZZ
Wikidata Q108821426

General Information

Publications
* Is the cell line readily obtainable for third parties?
Yes
Research use: allowed
Clinical use: not allowed
Commercial use: not allowed

Donor Information

General Donor Information

Sex male
Ethnicity Caucasian/ Italian

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Amyotrophic Lateral Sclerosis
  • ALS
  • Lou Gehrig Disease
  • Amyotrophic lateral sclerosis
show more synonyms
Genetic variants
16p11.2
NM_004960.4: c.1553G>T
NP_004951.1: p.Arg518Ile
Heterozygous
- Variant not found in gnomAD - Alternative variant p.Arg518Lys is classified Pathogenic by UniProt Variants (and confirmed using ACMG) - Pathogenic computational verdict based on 10 pathogenic predictions - Pathogenic verdict using Varsome

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
46, XY
Karyotyping method: Array CGH

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
No

External Databases (Donor)

BioSamples SAMEA9197920

Ethics

Has informed consent been obtained from the donor of the embryo/tissue from which the pluripotent stem cells have been derived? Yes
Was the consent voluntarily given? Yes
Has the donor been informed that participation will not directly influence their personal treatment? Yes
Can you provide us with a copy of the Donor Information Sheet provided to the donor? Yes
Do you (Depositor/Provider) hold the original Donor Consent Form? Yes
Confirm that consent was obtained by a qualified professional Yes
Has the donor agreed to be re-contacted? Yes
Has the donor been informed about how her/his data will be protected? Yes
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. pseudonymised
Does consent explicitly allow the derivation of pluripotent stem cells? Yes
Does consent expressly prevent the derivation of pluripotent stem cells? No
Does consent pertain to a specific research project? Yes
Details on restriction to research project Ricerca Finalizzata 2018 (GR-2018-12366086)
Does consent expressly permit storage of donated embryo/tissue for an unlimited time? Yes
Does consent prevent the DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
Does consent prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
How may genetic information associated with the cell line be accessed? Controlled Access
Will the donor expect to receive financial benefit, beyond reasonable expenses, in return for donating the biosample? No
Does the consent permit the donor, upon withdrawal of consent, to stop the use of the derived cell line(s) that have already been created from donated samples? Yes
Does the consent permit the donor, upon withdrawal of consent, to stop delivery or use of information and data about the donor? Yes
Has a favourable opinion been obtained from a research ethics committee, or other ethics review panel, in relation to the Research Protocol including the consent provisions? Yes
Name of accrediting authority involved? Ethical Committee “Fondazione Policlinico Universitario Agostino Gemelli IRCCS”
Approval number Protocol n. 0036530/19 (28/08/2019)
Has a favourable opinion been obtained from a research ethics committee, or other ethics review panel, in relation to the PROPOSED PROJECT, involving use of donated embryo/tissue or derived cells? Yes
Name of accrediting authority involved? Ethical Committee “Fondazione Policlinico Universitario Agostino Gemelli IRCCS”
Approval number Protocol n. 0036530/19 (28/08/2019)
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

hIPSC Derivation

General

Source cell type
Source cell origin
A zone of skin that is part of a lower leg [Automatically generated definition].
Synonyms
  • hind limb middle limb segment skin
  • hind limb zeugopod skin
  • hindlimb zeugopod skin
Passage number reprogrammed P3

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
Yes
Methods used
RT-PCR

Vector free reprogramming

Type of used vector free reprogramming factor(s)
None

Other

Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzyme-free cell dissociation
EDTA
O2 Concentration 20 %
CO2 Concentration 5 %
Medium Other medium:
Base medium: Stemflex
Main protein source: Fetal bovine serum
Serum concentration: %
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
No

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
SOX2
Yes
POU5F1 (OCT-4)
Yes
SSEA-4
Yes
TRA 1-60
Yes
Self-renewal
Positive
Endoderm
Negative
Mesoderm
Negative
Ectoderm score
Negative
Differentiation Potency

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XY
Passage number: P15
Karyotyping method: Array CGH

Other Genotyping (Cell Line)