Cellosaurus cell line SHETi004-A (CVCL

Cellosaurus SHETi004-A (CVCL_D0LM)

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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; HGNC:2770; DES; Simple; p.Thr453Ile (c.1358C>T); ClinVar=VCV000066401; Zygosity=Heterozygous (PubMed=37931536).

Disease

Myofibrillar myopathy 1 (NCIt: C206515)
Desminopathy (ORDO: Orphanet_98909)

Species of origin

Homo sapiens (Human) (NCBI Taxonomy: 9606)

Sex of cell

Female

Age at sampling

Category

Induced pluripotent stem cell

STR profile

Source(s): PubMed=37931536

Markers:

Amelogenin	X
CSF1PO	10,11
D2S1338	16,23
D3S1358	16,17
D5S818	10,11
D6S1043	11,14
D7S820	10,11
D8S1179	11,12
D10S1248	13,14
D12S391	23,24
D13S317	12
D16S539	9,11
D18S51	14,15
D19S433	12,15.2
D21S11	28,30
FGA	20,24
Penta D	9,11
Penta E	11,19
TH01	9
TPOX	8,11
vWA	14,16

Publications

PubMed=37931536; DOI=10.1016/j.scr.2023.103227
Ting-Xia Wang, Shan Hou, Juan Chen, Xiao-Pei Zhao, Ting-Ting Xiao, Cui-Lan Hou, Cui-Zhen Zhou;
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 creation

05-Oct-2023

Last entry update

19-Dec-2024

Version number