RCi004-B
Donor information | |
|---|---|
| Gender: | Female |
| Age: | 45-49 |
Disease status | |
| Disease: | Huntington disease |
| Affected: | No |
| Carrier: | Yes |
| Disease stage: | Pre-symptomatic at time of biopsy |
| Disease variant | |
| Gene: | HTT |
| Chromosome location: | 4p16.3 |
| Nucleotide sequence HGVS: | NM_002111.7:c.52CAG[40] |
| Zygosity: | Heterozygous |
| ClinVar ID: | SCV000054533.1 |
| Description: | DNA sample indicates one CAG repeat allele within the normal range (approximately 18 repeats) and one allele within the Huntington disease affected range (approximately 40 repeats) in the HTT gene. |
| Disease associated phenotypes: | Mutant gene: HTT |
General information | |
| Depositor: | Roslin Cells |
| Cell line name: | RCi004-B |
| Cell line alternative names: | RCi68, PDSC-3 |
| Biosamples ID: | SAMEA3106205 |
| hPSCreg name: | RCi004-B |
Related lines | |
| From the same donor: | RCi004-A |
Timepoint: Confluence
Magnification: 4x
Timepoint: Confluence
Magnification: 10x
-
Derivation
Derivation
Primary cell type: Fibroblast of dermis Location of primary tissue procurement: Zone of skin Passage number reprogrammed: 4 Reprogramming method
Vector type: Non-integrating Vector: Episomal Gene list: - KLF4
- Lin28
- MYC
- POU5F1
- shP53
- SOX2
Is the reprogramming vector detectable: Unknown Derivation
Xeno free conditions: no Derived under gmp: no Available as clinical grade: no -
Culture conditions
Culture Conditions
Medium: mTeSR Passage method: EDTA Matrix: Matrigel / Geltrex CO2 concentration: 5% O2 concentration: 21% Temperature: 37C -
Characterization
Characterization
Analysis of Undifferentiated Cells
Marker expression: Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles TRA 1-60 Yes SSEA-4 Yes SSEA-1 No POU5F1 (OCT-4) Yes Differentiation potency
Ectoderm: Ectoderm In vitro spontaneous differentiation
Marker Expressed B-TUBULIN No FOXG1 No HES5 Yes NEUROD1 Yes PAX6 Yes Sox1 No Endoderm: Endoderm In vitro spontaneous differentiation
Marker Expressed CXCR4 Yes FOXA2 Yes GATA6 Yes GSC No PITX1 Yes SOX17 Yes Mesoderm: Mesoderm In vitro spontaneous differentiation
Marker Expressed BMP4 Yes DCN Yes GATA4 Yes HAND1 Yes PDGF No PECAM1 (CD31) No VIMENTIN Yes Microbiology / Virus Screening
HIV 1: Negative HIV 2: Negative Hepatitis B: Negative Hepatitis C: Negative Mycoplasma: Negative Sterility
Inoculation for microbiological growth: No Contaminants Detected Mycoplasma: Not Detected Viability: Viable post-cryopreservation -
Genotyping
Genotyping
Karyotyping
Passage number: P15 Cell line karyotype: 14 out of 20 cells normal, 4 cells loss of chromosome 20 short arm and gain of long arm. 2 cells 46,XX,add(16)(p13.1) Karyotyping method: G-Banding Image / Result Genotyping
Genome-wide analysis: Whole genome sequencing
https://ega-archive.org/studies/EGAS00001002755STR/Fingerprinting: A 16 allele profile has been recorded and data is available upon request, after cell line purchase.
At European Collection of Authenticated Cell Cultures (ECACC)
In stock
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