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Cellosaurus SHETi004-A (CVCL_D0LM)

[Text version]
Cell line name SHETi004-A
Accession CVCL_D0LM
Resource Identification Initiative To cite this cell line use: SHETi004-A (RRID:CVCL_D0LM)
Comments From: Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2770; DES; Simple; p.Thr453Ile (c.1358C>T); ClinVar=VCV000066401; Zygosity=Heterozygous (PubMed=37931536).
Disease Myofibrillar myopathy (NCIt: C83009)
Desminopathy (ORDO: Orphanet_98909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 9Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=37931536

Markers:
AmelogeninX
CSF1PO10,11
D2S133816,23
D3S135816,17
D5S81810,11
D6S104311,14
D7S82010,11
D8S117911,12
D10S124813,14
D12S39123,24
D13S31712
D16S5399,11
D18S5114,15
D19S43312,15.2
D21S1128,30
FGA20,24
Penta D9,11
Penta E11,19
TH019
TPOX8,11
vWA14,16

Run an STR similarity search on this cell line
Publications

PubMed=37931536; DOI=10.1016/j.scr.2023.103227
Wang T.-X., Hou S., Chen J., Zhao X.-P., Xiao T.-T., Hou C.-L., Zhou C.-Z.
Generation of an induced pluripotent stem cell line (SHETi004-A) from a Chinese Han child with left bundle branch block.
Stem Cell Res. 73:103227-103227(2023)

Cross-references
Cell line databases/resources hPSCreg; SHETi004-A
Biological sample resources BioSamples; SAMEA114221411
Encyclopedic resources Wikidata; Q123033492
Entry history
Entry creation05-Oct-2023
Last entry update02-May-2024
Version number3