Li-Campeau syndrome

General

Cell Line

hPSCreg name SIPDi001-A
Cite as:
SIPDi001-A (RRID:CVCL_C1WU)
Alternative name(s)
Li-Campeau syndrome
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 6th June 2023
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Provider

Generator Shaanxi Institute of Pediatric Diseases (SIPD)
Owner Shaanxi Institute of Pediatric Diseases (SIPD)
Distributors
Derivation country China

External Databases

BioSamples SAMEA12936824
Cellosaurus CVCL_C1WU
Wikidata Q114313019

General Information

Publications
* Is the cell line readily obtainable for third parties?
No

Donor Information

General Donor Information

Sex male
Ethnicity Chinese

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • LICAS
Genetic variants
Chr14:93685590
NM_175748:c.863T>C
NP_786924:p.L288P
Heterozygous
VCV001292050.1
Disease associated phenotypes
  • global developmental delay, impaired intellectual development, dysmorphic facial features
Family history The proband's brother was diagnosed as the same syndrome.
Is the medical history available upon request? yes
Is clinical information available? yes

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
46 XY
Karyotyping method: G-Banding

Other Genotyping (Donor)

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

External Databases (Donor)

BioSamples SAMEA13166853

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? Unknown
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 prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? Yes
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
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 Review Committee of Xi'an Children’s Hospital
Approval number 2020-443
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
Mononuclear cells collected from peripheral blood.
Synonyms
  • Peripheral Blood Mononuclear cells
  • Derived Peripheral Blood Mononuclear Cell
Source cell origin
A liquid tissue; its major function is to transport oxygen throughout the body. It also supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection. Several hormones also travel in the blood.
Synonyms
  • Reticuloendothelial System, Blood
  • Peripheral Blood
  • peripheral blood
  • blood
  • Blood
  • Whole Blood
  • BLOOD
  • portion of blood
  • vertebrate blood
show more synonyms

Reprogramming method

Vector type Non-integrating
Vector Sendai virus

Vector free reprogramming

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

Culture Conditions

Medium mTeSR™ 1

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
SSEA-4
Yes
NANOG
Yes
Score:
Marker Present Absent
mCpG
OCT4
Self-renewal
Positive
Endoderm
Positive
Mesoderm
Positive
Ectoderm score
Positive

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46 XY
Karyotyping method: G-Banding

Other Genotyping (Cell Line)