Cellosaurus cell line MHHi010-A (CVCL

Cross-references
Cell line name	MHHi010-A
Synonyms	STAT1_CMC_1
Accession	CVCL_ZE34
Resource Identification Initiative	To cite this cell line use: MHHi010-A (RRID:CVCL_ZE34)
Comments	From: Hannover Medical School, LEBAO (MHH); Hannover; Germany. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; 11362; STAT1; Simple; p.Arg274Gln (c.821G>A); ClinVar=VCV000030085; Zygosity=Heterozygous (PubMed=32000109).
Disease	STAT1-associated immunodeficiency (NCIt: C172099) Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome (ORDO: Orphanet_391487)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	17Y
Category	Induced pluripotent stem cell
Publications	PubMed=32000109; DOI=10.1016/j.scr.2020.101713 Haake K., Wustefeld T., Merkert S., Luttge D., Gohring G., Auber B., Baumann U., Lachmann N. Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis. Stem Cell Res. 43:101713-101713(2020)
Cell line databases/resources	hPSCreg; MHHi010-A
Encyclopedic resources	Wikidata; Q98127234
Entry history
Entry creation	02-Jul-2020
Last entry update	29-Jun-2023
Version number	5