Cellosaurus cell line CRTDi010-B (CVCL

Cross-references
Cell line name	CRTDi010-B
Synonyms	AGS5_R164X
Accession	CVCL_C4SB
Resource Identification Initiative	To cite this cell line use: CRTDi010-B (RRID:CVCL_C4SB)
Comments	From: Center for Regenerative Therapies Dresden (CRTD); Dresden; Germany. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:15925; SAMHD1; Simple; p.Arg164Ter (c.490C>T); ClinVar=VCV000004069; Zygosity=Homozygous (PubMed=36115319).
Disease	Aicardi-Goutieres syndrome 5 (NCIt: C168564) Aicardi-Goutieres syndrome (ORDO: Orphanet_51)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C1P7 ! CRTDi010-A
Sex of cell	Male
Age at sampling	5Y
Category	Induced pluripotent stem cell
Publications	PubMed=36115319; DOI=10.1016/j.scr.2022.102912 Vanessa Hanchen, Stefanie Kretschmer, Christine Wolf, Kerstin Engel, Shahryar Khattak, Katrin Neumann, Min Ae Lee-Kirsch; Generation of induced pluripotent stem cell lines from three patients with Aicardi-Goutieres syndrome type 5 due to biallelic SAMDH1 mutations. Stem Cell Res. 64:102912-102912(2022)
Cell line databases/resources	hPSCreg; CRTDi010-B
Biological sample resources	BioSamples; SAMEA13155326
Encyclopedic resources	Wikidata; Q116048797
Entry history
Entry creation	15-Dec-2022
Last entry update	19-Dec-2024
Version number	4