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Cellosaurus CSCRi006-A (CVCL_C7XP)

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Cell line name CSCRi006-A
Synonyms DBA-fib-iPSC-R2C4
Accession CVCL_C7XP
Resource Identification Initiative To cite this cell line use: CSCRi006-A (RRID:CVCL_C7XP)
Comments From: Centre for Stem Cell Research, Christian Medical College; Vellore; India.
Population: Indian.
Miscellaneous: Sex and age of donor from personal communication of Rani, Sonam.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10402; RPS19; Simple; p.Asp8Argfs*42 (c.22_23delAG); Zygosity=Heterozygous (PubMed=37603219).
Disease Congenital pure red cell aplasia (NCIt: C61236)
Blackfan-Diamond anemia (ORDO: Orphanet_124)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=37603219

Markers:
AmelogeninX,Y
D1S165611
D2S44111,14
D2S133819,20
D3S135816
D8S117912,13
D10S124814,16
D12S39118,20
D16S5398,12
D18S5113,17
D19S43314.2,15.2
D21S1128,32.2
D22S104511
FGA23,26
SE3330.2,33.2
TH016
vWA16,17

Run an STR similarity search on this cell line
Publications

PubMed=37603219; DOI=10.1007/s13577-023-00946-y
Sonam Rani, Vasanth Thamodaran, Krittika Nandy, Nambiatheyil Aboobacker Fouzia, Madhavi Maddali, Praveena Rajesh, Selvaraj Vijayanand, Ernest David, Shaji Ramachandran Velayudhan;
Establishment and characterization of CSCRi006-A: an induced pluripotent stem cell line generated from a patient with Diamond-Blackfan anemia (DBA) carrying ribosomal protein S19 (RPS19) mutation.
Hum. Cell 36:2204-2213(2023)

Cross-references
Cell line databases/resources hPSCreg; CSCRi006-A
Biological sample resources BioSamples; SAMEA112879430
Encyclopedic resources Wikidata; Q123030971
Entry history
Entry creation29-Jun-2023
Last entry update19-Dec-2024
Version number4