Cellosaurus cell line CRTDi008-B (CVCL

Cellosaurus CRTDi008-B (CVCL_C4SC)

Cross-references
Cell line name	CRTDi008-B
Synonyms	AGS5_R290H/Q548X
Accession	CVCL_C4SC
Resource Identification Initiative	To cite this cell line use: CRTDi008-B (RRID:CVCL_C4SC)
Comments	From: Center for Regenerative Therapies Dresden (CRTD); Dresden; Germany. Population: Caucasian. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:15925; SAMHD1; Simple; p.Arg290His (c.869G>A); ClinVar=VCV002501214; Zygosity=Heterozygous (PubMed=36115319). Mutation; HGNC; HGNC:15925; SAMHD1; Simple; p.Gln548Ter (c.1642C>T); ClinVar=VCV000004071; Zygosity=Heterozygous (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_C1P4 ! CRTDi008-A
Sex of cell	Male
Age at sampling	12Y
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; CRTDi008-B
Biological sample resources	BioSamples; SAMEA13127475
Encyclopedic resources	Wikidata; Q116048796
Entry history
Entry creation	15-Dec-2022
Last entry update	19-Dec-2024
Version number	4