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Cellosaurus C-SU-iPS-1 (CVCL_E4G9)

[Text version]
Cell line name C-SU-iPS-1
Accession CVCL_E4G9
Resource Identification Initiative To cite this cell line use: C-SU-iPS-1 (RRID:CVCL_E4G9)
Comments From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
Omics: Deep exome analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4824; HBA2; Simple_corrected; p.Ter143Glnext*32 (c.427T>C); ClinVar=VCV000015624; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=31495903).
Disease Alpha thalassemia (NCIt: C34368)
Alpha-thalassemia (ORDO: Orphanet_846)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E4G8 (SU-iPS-1)
Sex of cell Male
Age at sampling 6M
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=31495903

Markers:
AmelogeninX,Y
CSF1PO10,12
D2S133823
D3S135816,18
D5S81811,12
D7S82011,12
D8S117910,12
D13S3178,10
D16S53911
D18S5111,14
D19S43312,15.2
D21S1129,32.2
FGA24
TH019,9.3
TPOX11
vWA16,17

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Publications

PubMed=31495903; DOI=10.1007/s00277-019-03763-2; PMCID=PMC6900276
Xie Y.-J., Xie Y.-H., Chen Y.-C., Li D.-Z., Wang D., Song B., Yang Y., Lu D., Xue Y.-T., Xiong Z.-Y., Liu N.-Q., Chen D.-Y., Sun X.-F.
CRISPR/Cas9 gene correction of HbH-CS thalassemia-induced pluripotent stem cells.
Ann. Hematol. 98:2661-2671(2019)

Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1