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Cellosaurus JTUi002-A (CVCL_YP17)

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Cell line name JTUi002-A
Accession CVCL_YP17
Resource Identification Initiative To cite this cell line use: JTUi002-A (RRID:CVCL_YP17)
Comments From: Sixth People's Hospital, Shanghai Jiao Tong University; Shanghai; China.
Population: Chinese; Han.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4284; GJB2; Simple; p.Leu79Cysfs*3 (c.235delC); ClinVar=VCV000017014; Zygosity=Heterozygous (PubMed=32199281).
  • Mutation; HGNC; HGNC:11190; SOX10; Simple; p.Tyr313Argfs*85 (c.937_947delTACTCAGCAGGC); Zygosity=Heterozygous (PubMed=32199281).
Disease Waardenburg syndrome (NCIt: C85222)
Waardenburg syndrome (ORDO: Orphanet_3440)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=32199281

Markers:
AmelogeninX,Y
CSF1PO11,12
D1S165615,16,17
D2S133817,22
D3S135815,16
D5S81811
D6S104310,14
D7S82010,11
D8S117910,13
D12S39118,20
D13S3179,11
D16S53912
D18S5116,20
D19S43313,15.2
D21S1130
FGA19,23
Penta D11,12
Penta E5,10
TH017,9.3
TPOX8
vWA14,18

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Publications

PubMed=32199281; DOI=10.1016/j.scr.2020.101756
Peng-Jun Wang, Jing-Jing Wang, Ya-Zhi Xing, Hui Wang, Dong-Zhen Yu, Yan-Mei Feng, Hong-Min Wu, Ya-Qin Wu, Zheng-Nong Chen, Ji-Ping Wang, Hai-Bo Shi;
Establishment of an iPSC line (JTUi002-A) from a patient with Waardenburg syndrome caused by a SOX10 mutation and carrying a GJB2 mutation.
Stem Cell Res. 44:101756-101756(2020)

Cross-references
Cell line databases/resources hPSCreg; JTUi002-A
SKIP; SKIP005810
Biological sample resources BioSamples; SAMEA6613349
Encyclopedic resources Wikidata; Q94332510
Entry history
Entry creation12-Mar-2020
Last entry update19-Dec-2024
Version number9