Cellosaurus cell line MDCUi001-A (CVCL

Cross-references
Cell line name	MDCUi001-A
Synonyms	Th-XOI#1
Accession	CVCL_XI89
Resource Identification Initiative	To cite this cell line use: MDCUi001-A (RRID:CVCL_XI89)
Comments	From: Center of Excellence for Medical Genomics, Chulalongkorn University; Bangkok; Thailand. Population: Southeast Asian; Thai. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:15455; MBTPS2; Simple; p.Asn459Ser (c.1376A>G); ClinVar=VCV000558767; Zygosity=Hemizygous (PubMed=31326747).
Disease	Osteogenesis imperfecta type XIX (NCIt: C164153)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_XI90 ! MDCUi001-B
Sex of cell	Male
Age at sampling	1Y
Category	Induced pluripotent stem cell
Publications	PubMed=31326747; DOI=10.1016/j.scr.2019.101493 Siraprapa Tongkobpetch, Ruttachuk Rungsiwiwut, Kamthorn Pruksananonda, Kanya Suphapeetiporn, Vorasuk Shotelersuk; Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from dermal fibroblasts of a Thai patient with X-linked osteogenesis imperfecta using integration-free Sendai virus. Stem Cell Res. 39:101493-101493(2019)
Cell line databases/resources	hPSCreg; MDCUi001-A SKIP; SKIP005784
Biological sample resources	BioSamples; SAMEA5843916
Encyclopedic resources	Wikidata; Q95987833
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9